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dbVar

Database of genomic structural variation

esv2668161

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:14,425

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: 210 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):203,938,384-203,952,808

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2668161	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	203,938,384	203,952,808
esv2668161	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	203,907,512	203,921,936

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5754355	deletion	SAMN00006589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv6320347	deletion	SAMN00006484	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,036
essv6442138	deletion	SAMN00009126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,897

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5754355	Remapped	Perfect	NC_000001.11:g.203 938384_203952808de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	203,938,384	203,952,808
essv6320347	Remapped	Perfect	NC_000001.11:g.203 938384_203952808de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	203,938,384	203,952,808
essv6442138	Remapped	Perfect	NC_000001.11:g.203 938384_203952808de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	203,938,384	203,952,808
essv5754355	Submitted genomic		NC_000001.10:g.203 907512_203921936de lA	GRCh37 (hg19)		NC_000001.10	Chr1	203,907,512	203,921,936
essv6320347	Submitted genomic		NC_000001.10:g.203 907512_203921936de lA	GRCh37 (hg19)		NC_000001.10	Chr1	203,907,512	203,921,936
essv6442138	Submitted genomic		NC_000001.10:g.203 907512_203921936de lA	GRCh37 (hg19)		NC_000001.10	Chr1	203,907,512	203,921,936

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6320347	7	SAMN00006484	SNP array	Probe signal intensity	Pass
essv5754355	7	SAMN00006589	SNP array	Probe signal intensity	Pass
essv6442138	7	SAMN00009126	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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