nstd118 - Polley et al 2015 - dbVar Study

nstd118 (Polley et al. 2015)

Organism:: Human
Study Type:: Control Set
Submitter:: Ed Hollox
Description:: We characterised copy number variation at the DMBT1 gene, which encodes a large glycoprotein known as salivary agglutinin, gp340, muclin or hensin. DMBT1 has a complex copy number variable structure, with two, independent, rapidly mutating copy number variable regions, called CNV1 and CNV2. We analysed the distribution across populations, calculated its mutation rate from analysing pedigrees. We provide evidence suggesting that CNV has been shaped by selection, in particular ability to bind both Streptococcus mutans and hydroxyapatite on the tooth surface. See Variant Summary counts for nstd118 in dbVar Variant Summary.
Publication(s):: Polley et al. 2015

Links

Source: NCBI

Detailed Information: Download 2 Variant Regions, Download 3917 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000010.11	Chr10	2	3,917	Remapped	NC_000010.11

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000010.10	Chr10	2	3,917	Submitted	NC_000010.10

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000010.10	Chr10	2	2	0	0	0	0	3,917	3,917	0	0	0	0

Samplesets

Number of Samplesets: 5

Sampleset ID:: 1
Name:: HapMap_sample
Sampleset Type:: Control
Description:: HapMap phase I samples from different populations
Size:: 269
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Control

Samples for sampleset 1 (displaying 100 of the 269 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
NA12812	Lymphoblastoid cell lines	NA12812	Male	European	Control
NA07348	Lymphoblastoid cell lines	NA07348	Female	European	Control
NA18502	Lymphoblastoid cell lines	NA18502	Female	Yoruba of Ibadan, Nigeria	Control
NA11993	Lymphoblastoid cell lines	NA11993	Female	European	Control
NA12813	Lymphoblastoid cell lines	NA12813	Female	European	Control
NA12761	Lymphoblastoid cell lines	NA12761	Female	European	Control
NA12154	Lymphoblastoid cell lines	NA12154	Male	European	Control
NA12057	Lymphoblastoid cell lines	NA12057	Female	European	Control
NA10857	Lymphoblastoid cell lines	NA10857	Male	European	Control
NA11839	Lymphoblastoid cell lines	NA11839	Male	European	Control
NA12156	Lymphoblastoid cell lines	NA12156	Female	European	Control
NA11881	Lymphoblastoid cell lines	NA11881	Male	European	Control
NA11831	Lymphoblastoid cell lines	NA11831	Male	European	Control
NA06993	Lymphoblastoid cell lines	NA06993	Male	European	Control
NA10830	Lymphoblastoid cell lines	NA10830	Male	European	Control
NA10856	Lymphoblastoid cell lines	NA10856	Male	European	Control
NA07048	Lymphoblastoid cell lines	NA07048	Male	European	Control
NA12056	Lymphoblastoid cell lines	NA12056	Male	European	Control
NA12236	Lymphoblastoid cell lines	NA12236	Female	European	Control
NA12751	Lymphoblastoid cell lines	NA12751	Female	European	Control
NA12155	Lymphoblastoid cell lines	NA12155	Male	European	Control
NA12146	Lymphoblastoid cell lines	NA12146	Male	European	Control
NA12872	Lymphoblastoid cell lines	NA12872	Male	European	Control
NA12865	Lymphoblastoid cell lines	NA12865	Female	European	Control
NA12249	Lymphoblastoid cell lines	NA12249	Female	European	Control
NA11830	Lymphoblastoid cell lines	NA11830	Female	European	Control
NA12892	Lymphoblastoid cell lines	NA12892	Female	European	Control
NA12716	Lymphoblastoid cell lines	NA12716	Male	European	Control
NA10859	Lymphoblastoid cell lines	NA10859	Female	European	Control
NA10838	Lymphoblastoid cell lines	NA10838	Male	European	Control
NA06991	Lymphoblastoid cell lines	NA06991	Female	European	Control
NA12760	Lymphoblastoid cell lines	NA12760	Male	European	Control
NA12763	Lymphoblastoid cell lines	NA12763	Female	European	Control
NA11995	Lymphoblastoid cell lines	NA11995	Female	European	Control
NA10831	Lymphoblastoid cell lines	NA10831	Female	European	Control
NA11829	Lymphoblastoid cell lines	NA11829	Male	European	Control
NA11992	Lymphoblastoid cell lines	NA11992	Male	European	Control
NA12815	Lymphoblastoid cell lines	NA12815	Female	European	Control
NA12043	Lymphoblastoid cell lines	NA12043	Male	European	Control
NA12003	Lymphoblastoid cell lines	NA12003	Male	European	Control
NA18501	Lymphoblastoid cell lines	NA18501	Male	Yoruba of Ibadan, Nigeria	Control
NA07022	Lymphoblastoid cell lines	NA07022	Male	European	Control
NA10860	Lymphoblastoid cell lines	NA10860	Male	European	Control
NA06985	Lymphoblastoid cell lines	NA06985	Female	European	Control
NA18508	Lymphoblastoid cell lines	NA18508	Female	Yoruba of Ibadan, Nigeria	Control
NA18505	Lymphoblastoid cell lines	NA18505	Female	Yoruba of Ibadan, Nigeria	Control
NA12044	Lymphoblastoid cell lines	NA12044	Female	European	Control
NA18500	Lymphoblastoid cell lines	NA18500	Male	Yoruba of Ibadan, Nigeria	Control
NA12234	Lymphoblastoid cell lines	NA12234	Female	European	Control
NA12264	Lymphoblastoid cell lines	NA12264	Male	European	Control
NA12874	Lymphoblastoid cell lines	NA12874	Male	European	Control
NA10851	Lymphoblastoid cell lines	NA10851	Male	European	Control
NA12145	Lymphoblastoid cell lines	NA12145	Female	European	Control
NA12752	Lymphoblastoid cell lines	NA12752	Male	European	Control
NA07029	Lymphoblastoid cell lines	NA07029	Male	European	Control
NA12004	Lymphoblastoid cell lines	NA12004	Female	European	Control
NA07357	Lymphoblastoid cell lines	NA07357	Male	European	Control
NA06994	Lymphoblastoid cell lines	NA06994	Male	European	Control
NA12878	Lymphoblastoid cell lines	NA12878	Female	European	Control
NA11840	Lymphoblastoid cell lines	NA11840	Female	European	Control
NA12864	Lymphoblastoid cell lines	NA12864	Male	European	Control
NA18506	Lymphoblastoid cell lines	NA18506	Male	Yoruba of Ibadan, Nigeria	Control
NA07034	Lymphoblastoid cell lines	NA07034	Male	European	Control
NA12753	Lymphoblastoid cell lines	NA12753	Female	European	Control
NA11994	Lymphoblastoid cell lines	NA11994	Male	European	Control
NA12248	Lymphoblastoid cell lines	NA12248	Male	European	Control
NA12005	Lymphoblastoid cell lines	NA12005	Male	European	Control
NA07345	Lymphoblastoid cell lines	NA07345	Female	European	Control
NA10847	Lymphoblastoid cell lines	NA10847	Female	European	Control
NA10839	Lymphoblastoid cell lines	NA10839	Female	European	Control
NA12762	Lymphoblastoid cell lines	NA12762	Male	European	Control
NA12006	Lymphoblastoid cell lines	NA12006	Female	European	Control
NA12144	Lymphoblastoid cell lines	NA12144	Male	European	Control
NA12891	Lymphoblastoid cell lines	NA12891	Male	European	Control
NA12814	Lymphoblastoid cell lines	NA12814	Male	European	Control
NA12801	Lymphoblastoid cell lines	NA12801	Male	European	Control
NA07055	Lymphoblastoid cell lines	NA07055	Female	European	Control
NA10863	Lymphoblastoid cell lines	NA10863	Female	European	Control
NA10855	Lymphoblastoid cell lines	NA10855	Female	European	Control
NA10854	Lymphoblastoid cell lines	NA10854	Female	European	Control
NA11882	Lymphoblastoid cell lines	NA11882	Female	European	Control
NA07019	Lymphoblastoid cell lines	NA07019	Female	European	Control
NA12717	Lymphoblastoid cell lines	NA12717	Female	European	Control
NA12707	Lymphoblastoid cell lines	NA12707	Male	European	Control
NA10835	Lymphoblastoid cell lines	NA10835	Male	European	Control
NA12873	Lymphoblastoid cell lines	NA12873	Female	European	Control
NA18503	Lymphoblastoid cell lines	NA18503	Male	Yoruba of Ibadan, Nigeria	Control
NA18507	Lymphoblastoid cell lines	NA18507	Male	Yoruba of Ibadan, Nigeria	Control
NA07056	Lymphoblastoid cell lines	NA07056	Female	European	Control
NA12875	Lymphoblastoid cell lines	NA12875	Female	European	Control
NA10861	Lymphoblastoid cell lines	NA10861	Female	European	Control
NA10846	Lymphoblastoid cell lines	NA10846	Male	European	Control
NA12750	Lymphoblastoid cell lines	NA12750	Male	European	Control
NA12802	Lymphoblastoid cell lines	NA12802	Female	European	Control
NA07000	Lymphoblastoid cell lines	NA07000	Female	European	Control
NA12740	Lymphoblastoid cell lines	NA12740	Female	European	Control
NA11832	Lymphoblastoid cell lines	NA11832	Female	European	Control
NA12239	Lymphoblastoid cell lines	NA12239	Female	European	Control
NA18504	Lymphoblastoid cell lines	NA18504	Male	Yoruba of Ibadan, Nigeria	Control
NA18515	Lymphoblastoid cell lines	NA18515	Male	Yoruba of Ibadan, Nigeria	Control

Sampleset ID:: 2
Name:: HGDP_sample
Sampleset Type:: Control
Size:: 971
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Control

Samples for sampleset 2 (displaying 100 of the 971 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
HGDP00080	Lymphoblastoid cell lines	HGDP00080	Male	Balochi	Control
HGDP00074	Lymphoblastoid cell lines	HGDP00074	Male	Balochi	Control
HGDP00108	Lymphoblastoid cell lines	HGDP00108	Male	Hazara	Control
HGDP00144	Lymphoblastoid cell lines	HGDP00144	Male	Makrani	Control
HGDP00064	Lymphoblastoid cell lines	HGDP00064	Male	Balochi	Control
HGDP00146	Lymphoblastoid cell lines	HGDP00146	Male	Makrani	Control
HGDP00099	Lymphoblastoid cell lines	HGDP00099	Male	Hazara	Control
HGDP00160	Lymphoblastoid cell lines	HGDP00160	Male	Makrani	Control
HGDP00157	Lymphoblastoid cell lines	HGDP00157	Female	Makrani	Control
HGDP00027	Lymphoblastoid cell lines	HGDP00027	Male	Brahui	Control
HGDP00031	Lymphoblastoid cell lines	HGDP00031	Male	Brahui	Control
HGDP00092	Lymphoblastoid cell lines	HGDP00092	Male	Balochi	Control
HGDP00019	Lymphoblastoid cell lines	HGDP00019	Male	Brahui	Control
HGDP00124	Lymphoblastoid cell lines	HGDP00124	Male	Hazara	Control
HGDP00021	Lymphoblastoid cell lines	HGDP00021	Male	Brahui	Control
HGDP00158	Lymphoblastoid cell lines	HGDP00158	Male	Makrani	Control
HGDP00135	Lymphoblastoid cell lines	HGDP00135	Male	Makrani	Control
HGDP00125	Lymphoblastoid cell lines	HGDP00125	Male	Hazara	Control
HGDP00005	Lymphoblastoid cell lines	HGDP00005	Male	Brahui	Control
HGDP00054	Lymphoblastoid cell lines	HGDP00054	Male	Balochi	Control
HGDP00049	Lymphoblastoid cell lines	HGDP00049	Male	Brahui	Control
HGDP00116	Lymphoblastoid cell lines	HGDP00116	Male	Hazara	Control
HGDP00052	Lymphoblastoid cell lines	HGDP00052	Male	Balochi	Control
HGDP00167	Lymphoblastoid cell lines	HGDP00167	Male	Sindhi	Control
HGDP00131	Lymphoblastoid cell lines	HGDP00131	Male	Makrani	Control
HGDP00119	Lymphoblastoid cell lines	HGDP00119	Male	Hazara	Control
HGDP00082	Lymphoblastoid cell lines	HGDP00082	Male	Balochi	Control
HGDP00161	Lymphoblastoid cell lines	HGDP00161	Male	Makrani	Control
HGDP00029	Lymphoblastoid cell lines	HGDP00029	Male	Brahui	Control
HGDP00127	Lymphoblastoid cell lines	HGDP00127	Male	Hazara	Control
HGDP00009	Lymphoblastoid cell lines	HGDP00009	Male	Brahui	Control
HGDP00110	Lymphoblastoid cell lines	HGDP00110	Male	Hazara	Control
HGDP00045	Lymphoblastoid cell lines	HGDP00045	Male	Brahui	Control
HGDP00106	Lymphoblastoid cell lines	HGDP00106	Male	Hazara	Control
HGDP00122	Lymphoblastoid cell lines	HGDP00122	Male	Hazara	Control
HGDP00150	Lymphoblastoid cell lines	HGDP00150	Male	Makrani	Control
HGDP00121	Lymphoblastoid cell lines	HGDP00121	Male	Hazara	Control
HGDP00115	Lymphoblastoid cell lines	HGDP00115	Male	Hazara	Control
HGDP00118	Lymphoblastoid cell lines	HGDP00118	Male	Hazara	Control
HGDP00070	Lymphoblastoid cell lines	HGDP00070	Male	Balochi	Control
HGDP00139	Lymphoblastoid cell lines	HGDP00139	Male	Makrani	Control
HGDP00041	Lymphoblastoid cell lines	HGDP00041	Male	Brahui	Control
HGDP00151	Lymphoblastoid cell lines	HGDP00151	Female	Makrani	Control
HGDP00011	Lymphoblastoid cell lines	HGDP00011	Male	Brahui	Control
HGDP00128	Lymphoblastoid cell lines	HGDP00128	Male	Hazara	Control
HGDP00086	Lymphoblastoid cell lines	HGDP00086	Male	Balochi	Control
HGDP00102	Lymphoblastoid cell lines	HGDP00102	Male	Hazara	Control
HGDP00003	Lymphoblastoid cell lines	HGDP00003	Male	Brahui	Control
HGDP00163	Lymphoblastoid cell lines	HGDP00163	Male	Sindhi	Control
HGDP00141	Lymphoblastoid cell lines	HGDP00141	Male	Makrani	Control
HGDP00076	Lymphoblastoid cell lines	HGDP00076	Male	Balochi	Control
HGDP00154	Lymphoblastoid cell lines	HGDP00154	Female	Makrani	Control
HGDP00148	Lymphoblastoid cell lines	HGDP00148	Male	Makrani	Control
HGDP00047	Lymphoblastoid cell lines	HGDP00047	Male	Brahui	Control
HGDP00001	Lymphoblastoid cell lines	HGDP00001	Male	Brahui	Control
HGDP00165	Lymphoblastoid cell lines	HGDP00165	Male	Sindhi	Control
HGDP00134	Lymphoblastoid cell lines	HGDP00134	Male	Makrani	Control
HGDP00133	Lymphoblastoid cell lines	HGDP00133	Male	Makrani	Control
HGDP00155	Lymphoblastoid cell lines	HGDP00155	Female	Makrani	Control
HGDP00025	Lymphoblastoid cell lines	HGDP00025	Male	Brahui	Control
HGDP00120	Lymphoblastoid cell lines	HGDP00120	Male	Hazara	Control
HGDP00090	Lymphoblastoid cell lines	HGDP00090	Male	Balochi	Control
HGDP00058	Lymphoblastoid cell lines	HGDP00058	Male	Balochi	Control
HGDP00066	Lymphoblastoid cell lines	HGDP00066	Male	Balochi	Control
HGDP00137	Lymphoblastoid cell lines	HGDP00137	Male	Makrani	Control
HGDP00105	Lymphoblastoid cell lines	HGDP00105	Male	Hazara	Control
HGDP00057	Lymphoblastoid cell lines	HGDP00057	Male	Balochi	Control
HGDP00094	Lymphoblastoid cell lines	HGDP00094	Male	Balochi	Control
HGDP00068	Lymphoblastoid cell lines	HGDP00068	Male	Balochi	Control
HGDP00129	Lymphoblastoid cell lines	HGDP00129	Male	Hazara	Control
HGDP00007	Lymphoblastoid cell lines	HGDP00007	Male	Brahui	Control
HGDP00098	Lymphoblastoid cell lines	HGDP00098	Male	Balochi	Control
HGDP00109	Lymphoblastoid cell lines	HGDP00109	Male	Hazara	Control
HGDP00078	Lymphoblastoid cell lines	HGDP00078	Male	Balochi	Control
HGDP00039	Lymphoblastoid cell lines	HGDP00039	Male	Brahui	Control
HGDP00143	Lymphoblastoid cell lines	HGDP00143	Male	Makrani	Control
HGDP00130	Lymphoblastoid cell lines	HGDP00130	Male	Makrani	Control
HGDP00140	Lymphoblastoid cell lines	HGDP00140	Male	Makrani	Control
HGDP00023	Lymphoblastoid cell lines	HGDP00023	Male	Brahui	Control
HGDP00062	Lymphoblastoid cell lines	HGDP00062	Male	Balochi	Control
HGDP00056	Lymphoblastoid cell lines	HGDP00056	Male	Balochi	Control
HGDP00100	Lymphoblastoid cell lines	HGDP00100	Male	Hazara	Control
HGDP00136	Lymphoblastoid cell lines	HGDP00136	Male	Makrani	Control
HGDP00088	Lymphoblastoid cell lines	HGDP00088	Male	Balochi	Control
HGDP00033	Lymphoblastoid cell lines	HGDP00033	Male	Brahui	Control
HGDP00017	Lymphoblastoid cell lines	HGDP00017	Male	Brahui	Control
HGDP00096	Lymphoblastoid cell lines	HGDP00096	Male	Balochi	Control
HGDP00035	Lymphoblastoid cell lines	HGDP00035	Male	Brahui	Control
HGDP00060	Lymphoblastoid cell lines	HGDP00060	Male	Balochi	Control
HGDP00149	Lymphoblastoid cell lines	HGDP00149	Male	Makrani	Control
HGDP00112	Lymphoblastoid cell lines	HGDP00112	Male	Hazara	Control
HGDP00103	Lymphoblastoid cell lines	HGDP00103	Male	Hazara	Control
HGDP00104	Lymphoblastoid cell lines	HGDP00104	Male	Hazara	Control
HGDP00072	Lymphoblastoid cell lines	HGDP00072	Male	Balochi	Control
HGDP00037	Lymphoblastoid cell lines	HGDP00037	Male	Brahui	Control
HGDP00153	Lymphoblastoid cell lines	HGDP00153	Female	Makrani	Control
HGDP00013	Lymphoblastoid cell lines	HGDP00013	Male	Brahui	Control
HGDP00145	Lymphoblastoid cell lines	HGDP00145	Male	Makrani	Control
HGDP00015	Lymphoblastoid cell lines	HGDP00015	Male	Brahui	Control
HGDP00043	Lymphoblastoid cell lines	HGDP00043	Male	Brahui	Control

Sampleset ID:: 3
Name:: CEPH families
Sampleset Type:: Control
Size:: 459
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Control

Samples for sampleset 3 (displaying 100 of the 459 samples)
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
NA07039	Lymphoblastoid cell lines	NA07039	Male	European	Control
NA06999	Lymphoblastoid cell lines	NA06999	Female	European	Control
NA06990	Lymphoblastoid cell lines	NA06990	Female	European	Control
NA07694	Lymphoblastoid cell lines	NA07694	Female	European	Control
NA10836	Lymphoblastoid cell lines	NA10836	Female	European	Control
NA07013	Lymphoblastoid cell lines	NA07013	Male	European	Control
NA07003	Lymphoblastoid cell lines	NA07003	Female	European	Control
NA07437	Lymphoblastoid cell lines	NA07437	Female	European	Control
NA07009	Lymphoblastoid cell lines	NA07009	Male	European	Control
NA07432	Lymphoblastoid cell lines	NA07432	Male	European	Control
NA07042	Lymphoblastoid cell lines	NA07042	Male	European	Control
NA07016	Lymphoblastoid cell lines	NA07016	Male	European	Control
NA07005	Lymphoblastoid cell lines	NA07005	Female	European	Control
NA07341	Lymphoblastoid cell lines	NA07341	Female	European	Control
NA06981	Lymphoblastoid cell lines	NA06981	Female	European	Control
NA07030	Lymphoblastoid cell lines	NA07030	Male	European	Control
NA07007	Lymphoblastoid cell lines	NA07007	Male	European	Control
NA07343	Lymphoblastoid cell lines	NA07343	Female	European	Control
NA07014	Lymphoblastoid cell lines	NA07014	Female	European	Control
NA10840	Lymphoblastoid cell lines	NA10840	Female	European	Control
NA07436	Lymphoblastoid cell lines	NA07436	Female	European	Control
NA07353	Lymphoblastoid cell lines	NA07353	Male	European	Control
NA07025	Lymphoblastoid cell lines	NA07025	Female	European	Control
NA06998	Lymphoblastoid cell lines	NA06998	Male	European	Control
NA07060	Lymphoblastoid cell lines	NA07060	Male	European	Control
NA07024	Lymphoblastoid cell lines	NA07024	Male	European	Control
NA07023	Lymphoblastoid cell lines	NA07023	Female	European	Control
NA07678	Lymphoblastoid cell lines	NA07678	Male	European	Control
NA07340	Lymphoblastoid cell lines	NA07340	Female	European	Control
NA07053	Lymphoblastoid cell lines	NA07053	Female	European	Control
NA07032	Lymphoblastoid cell lines	NA07032	Male	European	Control
NA07354	Lymphoblastoid cell lines	NA07354	Female	European	Control
NA06995	Lymphoblastoid cell lines	NA06995	Male	European	Control
NA07018	Lymphoblastoid cell lines	NA07018	Male	European	Control
NA10837	Lymphoblastoid cell lines	NA10837	Male	European	Control
NA07062	Lymphoblastoid cell lines	NA07062	Female	European	Control
NA07059	Lymphoblastoid cell lines	NA07059	Female	European	Control
NA07006	Lymphoblastoid cell lines	NA07006	Female	European	Control
NA06983	Lymphoblastoid cell lines	NA06983	Male	European	Control
NA07350	Lymphoblastoid cell lines	NA07350	Female	European	Control
NA07010	Lymphoblastoid cell lines	NA07010	Female	European	Control
NA07012	Lymphoblastoid cell lines	NA07012	Female	European	Control
NA10832	Lymphoblastoid cell lines	NA10832	Male	European	Control
NA07043	Lymphoblastoid cell lines	NA07043	Male	European	Control
NA07015	Lymphoblastoid cell lines	NA07015	Male	European	Control
NA06992	Lymphoblastoid cell lines	NA06992	Male	European	Control
NA07352	Lymphoblastoid cell lines	NA07352	Male	European	Control
NA07046	Lymphoblastoid cell lines	NA07046	Male	European	Control
NA07431	Lymphoblastoid cell lines	NA07431	Male	European	Control
NA07351	Lymphoblastoid cell lines	NA07351	Male	European	Control
NA07001	Lymphoblastoid cell lines	NA07001	Male	European	Control
NA06997	Lymphoblastoid cell lines	NA06997	Female	European	Control
NA07033	Lymphoblastoid cell lines	NA07033	Male	European	Control
NA07028	Lymphoblastoid cell lines	NA07028	Male	European	Control
NA07050	Lymphoblastoid cell lines	NA07050	Female	European	Control
NA06996	Lymphoblastoid cell lines	NA06996	Female	European	Control
NA07047	Lymphoblastoid cell lines	NA07047	Male	European	Control
NA07347	Lymphoblastoid cell lines	NA07347	Male	European	Control
NA06988	Lymphoblastoid cell lines	NA06988	Female	European	Control
NA07356	Lymphoblastoid cell lines	NA07356	Male	European	Control
NA07045	Lymphoblastoid cell lines	NA07045	Female	European	Control
NA07052	Lymphoblastoid cell lines	NA07052	Male	European	Control
NA07035	Lymphoblastoid cell lines	NA07035	Male	European	Control
NA07349	Lymphoblastoid cell lines	NA07349	Male	European	Control
NA07011	Lymphoblastoid cell lines	NA07011	Female	European	Control
NA07057	Lymphoblastoid cell lines	NA07057	Male	European	Control
NA07002	Lymphoblastoid cell lines	NA07002	Female	European	Control
NA10841	Lymphoblastoid cell lines	NA10841	Male	European	Control
NA07355	Lymphoblastoid cell lines	NA07355	Male	European	Control
NA07008	Lymphoblastoid cell lines	NA07008	Male	European	Control
NA07017	Lymphoblastoid cell lines	NA07017	Male	European	Control
NA07051	Lymphoblastoid cell lines	NA07051	Male	European	Control
NA07026	Lymphoblastoid cell lines	NA07026	Male	European	Control
NA07031	Lymphoblastoid cell lines	NA07031	Female	European	Control
NA07020	Lymphoblastoid cell lines	NA07020	Male	European	Control
NA06986	Lymphoblastoid cell lines	NA06986	Male	European	Control
NA10833	Lymphoblastoid cell lines	NA10833	Female	European	Control
NA07054	Lymphoblastoid cell lines	NA07054	Male	European	Control
NA07040	Lymphoblastoid cell lines	NA07040	Male	European	Control
NA07004	Lymphoblastoid cell lines	NA07004	Male	European	Control
NA07679	Lymphoblastoid cell lines	NA07679	Male	European	Control
NA07435	Lymphoblastoid cell lines	NA07435	Male	European	Control
NA07058	Lymphoblastoid cell lines	NA07058	Female	European	Control
NA10834	Lymphoblastoid cell lines	NA10834	Female	European	Control
NA07346	Lymphoblastoid cell lines	NA07346	Female	European	Control
NA07049	Lymphoblastoid cell lines	NA07049	Male	European	Control
NA07433	Lymphoblastoid cell lines	NA07433	Male	European	Control
NA07061	Lymphoblastoid cell lines	NA07061	Male	European	Control
NA07344	Lymphoblastoid cell lines	NA07344	Female	European	Control
NA07434	Lymphoblastoid cell lines	NA07434	Female	European	Control
NA07027	Lymphoblastoid cell lines	NA07027	Male	European	Control
NA06982	Lymphoblastoid cell lines	NA06982	Male	European	Control
NA07037	Lymphoblastoid cell lines	NA07037	Female	European	Control
NA07021	Lymphoblastoid cell lines	NA07021	Male	European	Control
NA07342	Lymphoblastoid cell lines	NA07342	Male	European	Control
NA06980	Lymphoblastoid cell lines	NA06980	Female	European	Control
NA07038	Lymphoblastoid cell lines	NA07038	Male	European	Control
NA07036	Lymphoblastoid cell lines	NA07036	Male	European	Control
NA06987	Lymphoblastoid cell lines	NA06987	Female	European	Control
NA07044	Lymphoblastoid cell lines	NA07044	Female	European	Control

Sampleset ID:: 4
Name:: Leicester_Europeans
Sampleset Type:: Control
Size:: 92
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Control

Samples for sampleset 4
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
F16	SALIVA	F16	Female	European	Control
T9	SALIVA	T9	Female	European	Control
L11	SALIVA	L11	Female	European	Control
E48	SALIVA	E48	Male	European	Control
E22	SALIVA	E22	Male	European	Control
L31	SALIVA	L31	Female	European	Control
E13	SALIVA	E13	Male	European	Control
L29	SALIVA	L29	Female	European	Control
F33	SALIVA	F33	Male	European	Control
F21	SALIVA	F21	Female	European	Control
E61	SALIVA	E61	Female	European	Control
L36	SALIVA	L36	Female	European	Control
F26	SALIVA	F26	Female	European	Control
F37	SALIVA	F37	Female	European	Control
E18	SALIVA	E18	Female	European	Control
F8	SALIVA	F8	Female	European	Control
F59	SALIVA	F59	Male	European	Control
E54	SALIVA	E54	Female	European	Control
E6	SALIVA	E6	Female	European	Control
T42	SALIVA	T42	Male	European	Control
T3	SALIVA	T3	Male	European	Control
E64	SALIVA	E64	Male	European	Control
E45	SALIVA	E45	Male	European	Control
F56	SALIVA	F56	Female	European	Control
F64	SALIVA	F64	Male	European	Control
E46	SALIVA	E46	Male	European	Control
F31	SALIVA	F31	Female	European	Control
F70	SALIVA	F70	Female	European	Control
F38	SALIVA	F38	Male	European	Control
F54	SALIVA	F54	Male	European	Control
E42	SALIVA	E42	Male	European	Control
T32	SALIVA	T32	Female	European	Control
F2	SALIVA	F2	Female	European	Control
L33	SALIVA	L33	Female	European	Control
F45	SALIVA	F45	Male	European	Control
F36	SALIVA	F36	Female	European	Control
F24	SALIVA	F24	Male	European	Control
E41	SALIVA	E41	Male	European	Control
L39	SALIVA	L39	Female	European	Control
F66	SALIVA	F66	Male	European	Control
F44	SALIVA	F44	Male	European	Control
L6	SALIVA	L6	Male	European	Control
F6	SALIVA	F6	Female	European	Control
L21	SALIVA	L21	Male	European	Control
T43	SALIVA	T43	Female	European	Control
F17	SALIVA	F17	Female	European	Control
E19	SALIVA	E19	Female	European	Control
T50	SALIVA	T50	Female	European	Control
T5	SALIVA	T5	Female	European	Control
F28	SALIVA	F28	Male	European	Control
E40	SALIVA	E40	Male	European	Control
E43	SALIVA	E43	Female	European	Control
T16	SALIVA	T16	Female	European	Control
T20	SALIVA	T20	Female	European	Control
L17	SALIVA	L17	Male	European	Control
T23	SALIVA	T23	Female	European	Control
L14	SALIVA	L14	Male	European	Control
F57	SALIVA	F57	Male	European	Control
F65	SALIVA	F65	Female	European	Control
E24	SALIVA	E24	Male	European	Control
E17	SALIVA	E17	Female	European	Control
F7	SALIVA	F7	Male	European	Control
E4	SALIVA	E4	Male	European	Control
L20	SALIVA	L20	Male	European	Control
F51	SALIVA	F51	Female	European	Control
L24	SALIVA	L24	Male	European	Control
L16	SALIVA	L16	Male	European	Control
F42	SALIVA	F42	Male	European	Control
F9	SALIVA	F9	Female	European	Control
E23	SALIVA	E23	Male	European	Control
L27	SALIVA	L27	Female	European	Control
F63	SALIVA	F63	Male	European	Control
L5	SALIVA	L5	Female	European	Control
F13	SALIVA	F13	Male	European	Control
E1	SALIVA	E1	Male	European	Control
L34	SALIVA	L34	Female	European	Control
F40	SALIVA	F40	Male	European	Control
F68	SALIVA	F68	Male	European	Control
T73	SALIVA	T73	Female	European	Control
E59	SALIVA	E59	Male	European	Control
F22	SALIVA	F22	Female	European	Control
F23	SALIVA	F23	Male	European	Control
E51	SALIVA	E51	Female	European	Control
F58	SALIVA	F58	Male	European	Control
F19	SALIVA	F19	Female	European	Control
F50	SALIVA	F50	Male	European	Control
F18	SALIVA	F18	Female	European	Control
F5	SALIVA	F5	Male	European	Control
F11	SALIVA	F11	Male	European	Control
F12	SALIVA	F12	Male	European	Control
F49	SALIVA	F49	Female	European	Control
L37	SALIVA	L37	Male	European	Control

Sampleset ID:: 5
Name:: Leicester_nonEuropeans
Sampleset Type:: Control
Size:: 33
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Control

Samples for sampleset 5
Sample ID	Cell Type	Subject ID	Sex	Ethnicity	Subject Phenotype
F52	SALIVA	F52	Male	Indian	Control
T28	SALIVA	T28	Male	Turkish	Control
E8	SALIVA	E8	Male	Indian	Control
E47	SALIVA	E47	Female	Indian	Control
F15	SALIVA	F15	Female	Indian	Control
F32	SALIVA	F32	Female	Iranian	Control
E39	SALIVA	E39	Male	Indian	Control
E7	SALIVA	E7	Female	Indian	Control
E2	SALIVA	E2	Male	Sudan	Control
F3	SALIVA	F3	Male	Iranian	Control
F25	SALIVA	F25	Female	Iranian	Control
T24	SALIVA	T24	Female	Indian	Control
F34	SALIVA	F34	Female	Jordanian	Control
T27	SALIVA	T27	Male	Asian-British	Control
E49	SALIVA	E49	Female	Indian	Control
T53	SALIVA	T53	Male	Indian	Control
T15	SALIVA	T15	Male	Indian	Control
E55	SALIVA	E55	Male	African	Control
L2	SALIVA	L2	Female	Phillipines	Control
F62	SALIVA	F62	Male	Indian	Control
E50	SALIVA	E50	Female	Indian	Control
E57	SALIVA	E57	Male	Indian	Control
T10	SALIVA	T10	Female	Chinese	Control
F10	SALIVA	F10	Female	Indian	Control
F1	SALIVA	F1	Male	Indian	Control
L28	SALIVA	L28	Female	Indian	Control
F4	SALIVA	F4	Female	Libya	Control
T8	SALIVA	T8	Female	Malaysian	Control
T39	SALIVA	T39	Female	Indian	Control
E36	SALIVA	E36	Female	Chinese	Control
E60	SALIVA	E60	Female	Indian	Control
E53	SALIVA	E53	Female	Indian	Control
E5	SALIVA	E5	Female	Indian	Control

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	qPCR	Probe signal intensity	1,824
2	Discovery	qPCR	Probe signal intensity	1,824
3	Discovery	Oligo aCGH	Probe signal intensity	269
4	Validation	PCR	Manual observation	535
5	Validation	PCR	Manual observation	130

Validations

Experiment ID	Method	Analysis	Number of Variant Calls Validated
4	PCR	Manual observation	535
5	PCR	Manual observation	130

dbVar

Database of genomic structural variation

nstd118 (Polley et al. 2015)

Links

Detailed Information: Download 2 Variant Regions, Download 3917 Variant Calls, Download Both, FTP

Variant Summary

Variant Summary for: GRCh38.p12 (hg38)GRCh37 (hg19)

Remapping summary: GRCh37->GRCh38.p12

Samplesets

Number of Samplesets: 5

Experimental Details

Validations

Variant Summary for:

Remapping summary: