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dbVar

Database of genomic structural variation

esv2659446

Organism: Homo sapiens

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

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:10,549

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: 274 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):78,728,053-78,738,601

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659446	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
esv2659446	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,761,950	78,772,498

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5649551	deletion	SAMN00000524	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,146
essv5969162	deletion	SAMN00006459	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5995261	deletion	SAMN00001640	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,112
essv6127175	deletion	SAMN00001643	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,323
essv6228090	deletion	SAMN00000523	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,001
essv6419003	deletion	SAMN00000486	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,080
essv6549730	deletion	SAMN00001645	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,228

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5649551	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv5969162	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv5995261	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv6127175	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv6228090	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv6419003	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv6549730	Remapped	Perfect	NC_000016.10:g.787 28053_78738601delT	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,728,053	78,738,601
essv5649551	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv5969162	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv5995261	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv6127175	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv6228090	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv6419003	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498
essv6549730	Submitted genomic		NC_000016.9:g.7876 1950_78772498delT	GRCh37 (hg19)		NC_000016.9	Chr16	78,761,950	78,772,498

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6419003	7	SAMN00000486	SNP array	Probe signal intensity	Pass
essv6228090	7	SAMN00000523	SNP array	Probe signal intensity	Pass
essv5649551	7	SAMN00000524	SNP array	Probe signal intensity	Pass
essv5995261	7	SAMN00001640	SNP array	Probe signal intensity	Pass
essv6127175	7	SAMN00001643	SNP array	Probe signal intensity	Pass
essv6549730	7	SAMN00001645	SNP array	Probe signal intensity	Pass
essv5969162	7	SAMN00006459	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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