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dbVar

Database of genomic structural variation

esv2656313

Organism: Homo sapiens

Study:estd198 (Chia et al. 2013)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:10,823

Publication(s):Chia et al. 2013

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: 741 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):77,545,190-77,556,012

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2656313	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	77,545,190	77,556,012
esv2656313	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	75,257,146	75,267,968
esv2656313	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	73,386,134	73,396,956

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv5395538	copy number loss	2245 [62]	SNP array	SNP genotyping analysis	0	8
essv5395466	copy number loss	2246 [63]	SNP array	SNP genotyping analysis	0	6
essv5395144	copy number loss	2342 [37]	SNP array	SNP genotyping analysis	0	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv5395538	Remapped	Perfect	NC_000018.10:g.(?_ 77545190)_(7755601 2_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,545,190	77,556,012
essv5395466	Remapped	Perfect	NC_000018.10:g.(?_ 77555083)_(7755601 2_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,555,083	77,556,012
essv5395144	Remapped	Perfect	NC_000018.10:g.(?_ 77555083)_(7755872 9_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,555,083	77,558,729
essv5395538	Remapped	Perfect	NC_000018.9:g.(?_7 5257146)_(75267968 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	75,257,146	75,267,968
essv5395466	Remapped	Perfect	NC_000018.9:g.(?_7 5267039)_(75267968 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	75,267,039	75,267,968
essv5395144	Remapped	Perfect	NC_000018.9:g.(?_7 5267039)_(75270685 _?)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	75,267,039	75,270,685
essv5395538	Submitted genomic		NC_000018.8:g.(?_7 3386134)_(73396956 _?)del	NCBI36 (hg18)		NC_000018.8	Chr18	73,386,134	73,396,956
essv5395466	Submitted genomic		NC_000018.8:g.(?_7 3396027)_(73396956 _?)del	NCBI36 (hg18)		NC_000018.8	Chr18	73,396,027	73,396,956
essv5395144	Submitted genomic		NC_000018.8:g.(?_7 3396027)_(73399673 _?)del	NCBI36 (hg18)		NC_000018.8	Chr18	73,396,027	73,399,673

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5395538	2	2245 [62]	Karyotyping	Manual observation	Pass
essv5395466	2	2246 [63]	Karyotyping	Manual observation	Pass
essv5395144	2	2342 [37]	Karyotyping	Manual observation	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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