esv2665595

Organism: Homo sapiens

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

Variant Calls:24
Validation:Yes
Clinical Assertions: No
Region Size:13,048

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: 1142 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):69,078,608-69,091,655

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
esv2665595	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
esv2665595	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5422915	deletion	SAMN00001290	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864
essv5448345	deletion	SAMN00001271	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	654
essv5560911	deletion	SAMN00004683	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,782
essv5567440	deletion	SAMN00006522	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,660
essv5613668	deletion	SAMN00006489	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,122
essv5667885	deletion	SAMN00006433	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,373
essv5671514	deletion	SAMN00006562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv5726255	deletion	SAMN00006511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,159
essv5744119	deletion	SAMN00006541	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,690
essv5795597	deletion	SAMN00006481	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,764
essv5808373	deletion	SAMN00001241	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	700
essv5839379	deletion	SAMN00006454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,600
essv5962961	deletion	SAMN00006525	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,128
essv6019430	deletion	SAMN00006463	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,668
essv6062685	deletion	SAMN00006478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,718
essv6149745	deletion	SAMN00001292	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864
essv6250611	deletion	SAMN00006573	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,689
essv6332516	deletion	SAMN00006448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,788
essv6395817	deletion	SAMN00006432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,127
essv6406799	deletion	SAMN00006472	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,467
essv6464362	deletion	SAMN00006466	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,824
essv6498328	deletion	SAMN00006441	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,777
essv6518021	deletion	SAMN00001243	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	823
essv6546074	deletion	SAMN00006544	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,696

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5422915	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5448345	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5560911	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5567440	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5613668	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5667885	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5671514	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5726255	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5744119	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5795597	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5808373	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5839379	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5962961	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6019430	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6062685	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6149745	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6250611	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6332516	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6395817	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6406799	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6464362	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6498328	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6518021	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv6546074	Remapped	Perfect	NC_000018.10:g.(69 078608_69079179)_( 69091235_69091655) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,078,608	69,079,179	69,091,235	69,091,655
essv5422915	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5448345	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5560911	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5567440	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5613668	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5667885	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5671514	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5726255	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5744119	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5795597	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5808373	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5839379	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv5962961	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6019430	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6062685	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6149745	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6250611	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6332516	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6395817	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6406799	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6464362	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6498328	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6518021	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892
essv6546074	Submitted genomic		NC_000018.9:g.(667 45845_66746416)_(6 6758472_66758892)d el	GRCh37 (hg19)		NC_000018.9	Chr18	66,745,845	66,746,416	66,758,472	66,758,892

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5808373	7	SAMN00001241	SNP array	Probe signal intensity	Pass
essv6518021	7	SAMN00001243	SNP array	Probe signal intensity	Pass
essv5448345	7	SAMN00001271	SNP array	Probe signal intensity	Pass
essv5422915	7	SAMN00001290	SNP array	Probe signal intensity	Pass
essv6149745	7	SAMN00001292	SNP array	Probe signal intensity	Pass
essv5560911	7	SAMN00004683	SNP array	Probe signal intensity	Pass
essv6395817	7	SAMN00006432	SNP array	Probe signal intensity	Pass
essv5667885	7	SAMN00006433	SNP array	Probe signal intensity	Pass
essv6498328	7	SAMN00006441	SNP array	Probe signal intensity	Pass
essv6332516	7	SAMN00006448	SNP array	Probe signal intensity	Pass
essv5839379	7	SAMN00006454	SNP array	Probe signal intensity	Pass
essv6019430	7	SAMN00006463	SNP array	Probe signal intensity	Pass
essv6464362	7	SAMN00006466	SNP array	Probe signal intensity	Pass
essv6406799	7	SAMN00006472	SNP array	Probe signal intensity	Pass
essv6062685	7	SAMN00006478	SNP array	Probe signal intensity	Pass
essv5795597	7	SAMN00006481	SNP array	Probe signal intensity	Pass
essv5613668	7	SAMN00006489	SNP array	Probe signal intensity	Pass
essv5726255	7	SAMN00006511	SNP array	Probe signal intensity	Pass
essv5567440	7	SAMN00006522	SNP array	Probe signal intensity	Pass
essv5962961	7	SAMN00006525	SNP array	Probe signal intensity	Pass
essv5744119	7	SAMN00006541	SNP array	Probe signal intensity	Pass
essv6546074	7	SAMN00006544	SNP array	Probe signal intensity	Pass
essv5671514	7	SAMN00006562	SNP array	Probe signal intensity	Pass
essv6250611	7	SAMN00006573	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2665595

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