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dbVar

Database of genomic structural variation

esv2666844

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:12,129

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

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: 312 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):104,824,064-104,836,192

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2666844	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	104,824,064	104,824,221	104,836,030	104,836,192
esv2666844	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	104,464,511	104,464,668	104,476,477	104,476,639

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5567224	deletion	SAMN00007737	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,715
essv5747082	deletion	SAMN00014312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv6476166	deletion	SAMN00001191	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,461

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5567224	Remapped	Perfect	NC_000007.14:g.(10 4824064_104824221) _(104836030_104836 192)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	104,824,064	104,824,221	104,836,030	104,836,192
essv5747082	Remapped	Perfect	NC_000007.14:g.(10 4824064_104824221) _(104836030_104836 192)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	104,824,064	104,824,221	104,836,030	104,836,192
essv6476166	Remapped	Perfect	NC_000007.14:g.(10 4824064_104824221) _(104836030_104836 192)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	104,824,064	104,824,221	104,836,030	104,836,192
essv5567224	Submitted genomic		NC_000007.13:g.(10 4464511_104464668) _(104476477_104476 639)del	GRCh37 (hg19)		NC_000007.13	Chr7	104,464,511	104,464,668	104,476,477	104,476,639
essv5747082	Submitted genomic		NC_000007.13:g.(10 4464511_104464668) _(104476477_104476 639)del	GRCh37 (hg19)		NC_000007.13	Chr7	104,464,511	104,464,668	104,476,477	104,476,639
essv6476166	Submitted genomic		NC_000007.13:g.(10 4464511_104464668) _(104476477_104476 639)del	GRCh37 (hg19)		NC_000007.13	Chr7	104,464,511	104,464,668	104,476,477	104,476,639

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6476166	7	SAMN00001191	SNP array	Probe signal intensity	Pass
essv5567224	7	SAMN00007737	SNP array	Probe signal intensity	Pass
essv5747082	7	SAMN00014312	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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