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dbVar

Database of genomic structural variation

esv3978850

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:110,001

Publication(s):Fakhro et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 581 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):71,058,598-71,168,598

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3978850	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	71,058,598	71,168,598
esv3978850	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	71,092,501	71,202,501

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv26026171	duplication	DGMQ-31582	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,592
essv25951141	duplication	DGMQ-32056	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,667
essv25961691	duplication	DGMQ-31497	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,530
essv25993202	duplication	DGMQ-31537	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,606
essv25979037	duplication	DGMQ-31872	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,597
essv25909971	duplication	DGMQ-32368	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,513
essv26008856	duplication	DGMQ-31552	SNP array, Sequencing	Other, Probe signal intensity, Read depth	3	1,615

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv26026171	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 048)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,048
essv25951141	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 398)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,398
essv25961691	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 398)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,398
essv25993202	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 398)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,398
essv25979037	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 448)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,448
essv25909971	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 548)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,548
essv26008856	Remapped	Perfect	NC_000016.10:g.(71 058598_?)_(?_71168 598)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	71,058,598	71,168,598
essv26026171	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712019 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,201,951
essv25951141	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712023 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,301
essv25961691	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712023 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,301
essv25993202	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712023 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,301
essv25979037	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712023 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,351
essv25909971	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712024 51)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,451
essv26008856	Submitted genomic		NC_000016.9:g.(710 92501_?)_(?_712025 01)dup	GRCh37 (hg19)		NC_000016.9	Chr16	71,092,501	71,202,501

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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