esv2665413

Organism: Homo sapiens

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

Variant Calls:30
Validation:Yes
Clinical Assertions: No
Region Size:11,948

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: 227 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):62,302,386-62,314,333

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
esv2665413	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
esv2665413	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5489555	deletion	SAMN00000481	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	950
essv5495509	deletion	SAMN00004417	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,314
essv5543946	deletion	SAMN00001682	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	821
essv5663028	deletion	SAMN00001686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	807
essv5680241	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv5700670	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv5700826	deletion	SAMN00000566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	947
essv5716986	deletion	SAMN00001665	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,385
essv5725893	deletion	SAMN00001579	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,501
essv5778743	deletion	SAMN00001683	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	863
essv5786605	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv5851937	deletion	SAMN00000479	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv5852550	deletion	SAMN00001667	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,455
essv5912068	deletion	SAMN00001627	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,454
essv5959765	deletion	SAMN00001630	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,448
essv5967236	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882
essv5972411	deletion	SAMN00001592	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,597
essv6038208	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv6107312	deletion	SAMN00001584	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6123489	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6165831	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6214952	deletion	SAMN00001684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6248954	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6277643	deletion	SAMN00001673	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111
essv6324954	deletion	SAMN00000570	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	924
essv6337420	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6369291	deletion	SAMN00001680	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	838
essv6514235	deletion	SAMN00001693	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,362
essv6581999	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv6583036	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5489555	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5495509	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5543946	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5663028	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5680241	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5700670	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5700826	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5716986	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5725893	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5778743	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5786605	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5851937	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5852550	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5912068	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5959765	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5967236	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5972411	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6038208	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6107312	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6123489	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6165831	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6214952	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6248954	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6277643	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6324954	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6337420	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6369291	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6514235	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6581999	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv6583036	Remapped	Perfect	NC_000008.11:g.(62 302386_62302757)_( 62313963_62314333) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	62,302,386	62,302,757	62,313,963	62,314,333
essv5489555	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5495509	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5543946	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5663028	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5680241	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5700670	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5700826	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5716986	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5725893	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5778743	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5786605	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5851937	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5852550	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5912068	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5959765	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5967236	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv5972411	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6038208	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6107312	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6123489	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6165831	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6214952	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6248954	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6277643	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6324954	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6337420	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6369291	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6514235	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6581999	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892
essv6583036	Submitted genomic		NC_000008.10:g.(63 214945_63215316)_( 63226522_63226892) del	GRCh37 (hg19)		NC_000008.10	Chr8	63,214,945	63,215,316	63,226,522	63,226,892

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5700670	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv5786605	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv6337420	7	SAMN00000476	SNP array	Probe signal intensity	Pass
essv6581999	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv5851937	7	SAMN00000479	SNP array	Probe signal intensity	Pass
essv5489555	7	SAMN00000481	SNP array	Probe signal intensity	Pass
essv6165831	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv5700826	7	SAMN00000566	SNP array	Probe signal intensity	Pass
essv6038208	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv6324954	7	SAMN00000570	SNP array	Probe signal intensity	Pass
essv5967236	7	SAMN00001576	SNP array	Probe signal intensity	Pass
essv5725893	7	SAMN00001579	SNP array	Probe signal intensity	Pass
essv6248954	7	SAMN00001580	SNP array	Probe signal intensity	Pass
essv6107312	7	SAMN00001584	SNP array	Probe signal intensity	Pass
essv6583036	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv5972411	7	SAMN00001592	SNP array	Probe signal intensity	Pass
essv5912068	7	SAMN00001627	SNP array	Probe signal intensity	Pass
essv6123489	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv5959765	7	SAMN00001630	SNP array	Probe signal intensity	Pass
essv5716986	7	SAMN00001665	SNP array	Probe signal intensity	Pass
essv5852550	7	SAMN00001667	SNP array	Probe signal intensity	Pass
essv6277643	7	SAMN00001673	SNP array	Probe signal intensity	Pass
essv6369291	7	SAMN00001680	SNP array	Probe signal intensity	Pass
essv5543946	7	SAMN00001682	SNP array	Probe signal intensity	Pass
essv5778743	7	SAMN00001683	SNP array	Probe signal intensity	Pass
essv6214952	7	SAMN00001684	SNP array	Probe signal intensity	Pass
essv5680241	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv5663028	7	SAMN00001686	SNP array	Probe signal intensity	Pass
essv6514235	7	SAMN00001693	SNP array	Probe signal intensity	Pass
essv5495509	7	SAMN00004417	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2665413

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant