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dbVar

Database of genomic structural variation

esv2672086

Organism: Homo sapiens

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

Variant Calls:8
Validation:Yes
Clinical Assertions: No
Region Size:12,969

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: 178 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):55,096,718-55,109,686

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2672086	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
esv2672086	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	55,323,854	55,336,822

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5509444	deletion	SAMN00001260	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	945
essv5735837	deletion	SAMN00001258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	799
essv5873638	deletion	SAMN00001232	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	809
essv5925393	deletion	SAMN00006595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,660
essv5971664	deletion	SAMN00001143	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,643
essv6214761	deletion	SAMN00001266	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	829
essv6359580	deletion	SAMN00001667	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,455
essv6511376	deletion	SAMN00007862	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	973

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5509444	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv5735837	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv5873638	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv5925393	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv5971664	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv6214761	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv6359580	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv6511376	Remapped	Perfect	NC_000002.12:g.550 96718_55109686delG	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,096,718	55,109,686
essv5509444	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv5735837	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv5873638	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv5925393	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv5971664	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv6214761	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv6359580	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822
essv6511376	Submitted genomic		NC_000002.11:g.553 23854_55336822delG	GRCh37 (hg19)		NC_000002.11	Chr2	55,323,854	55,336,822

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5971664	7	SAMN00001143	SNP array	Probe signal intensity	Pass
essv5873638	7	SAMN00001232	SNP array	Probe signal intensity	Pass
essv5735837	7	SAMN00001258	SNP array	Probe signal intensity	Pass
essv5509444	7	SAMN00001260	SNP array	Probe signal intensity	Pass
essv6214761	7	SAMN00001266	SNP array	Probe signal intensity	Pass
essv6359580	7	SAMN00001667	SNP array	Probe signal intensity	Pass
essv5925393	7	SAMN00006595	SNP array	Probe signal intensity	Pass
essv6511376	7	SAMN00007862	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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