esv2675985

Organism: Homo sapiens

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

Variant Calls:28
Validation:Yes
Clinical Assertions: No
Region Size:12,548

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: 372 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):150,953,043-150,965,590

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
esv2675985	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
esv2675985	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5440470	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv5556008	deletion	SAMN00000482	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	982
essv5593202	deletion	SAMN00000565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv5610489	deletion	SAMN00001693	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,362
essv5654860	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv5667071	deletion	SAMN00001671	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,447
essv5690327	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv5752936	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv5756746	deletion	SAMN00001627	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,454
essv5764125	deletion	SAMN00001688	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	843
essv5773842	deletion	SAMN00001665	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,385
essv5786138	deletion	SAMN00001628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,528
essv5813978	deletion	SAMN00001623	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,585
essv5876938	deletion	SAMN00001691	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv5883727	deletion	SAMN00000572	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,233
essv5891666	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv6000274	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv6028801	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv6068160	deletion	SAMN00001684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6093628	deletion	SAMN00001578	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,497
essv6186850	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv6234209	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6236392	deletion	SAMN00001667	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,455
essv6351108	deletion	SAMN00001584	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6430564	deletion	SAMN00000549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,136
essv6458212	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv6468653	deletion	SAMN00001587	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,494
essv6534993	deletion	SAMN00001590	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,510

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5440470	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5556008	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5593202	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5610489	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5654860	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5667071	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5690327	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5752936	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5756746	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5764125	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5773842	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5786138	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5813978	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5876938	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5883727	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5891666	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6000274	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6028801	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6068160	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6093628	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6186850	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6234209	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6236392	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6351108	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6430564	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6458212	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6468653	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv6534993	Remapped	Perfect	NC_000004.12:g.(15 0953043_150953414) _(150965220_150965 590)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	150,953,043	150,953,414	150,965,220	150,965,590
essv5440470	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5556008	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5593202	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5610489	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5654860	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5667071	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5690327	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5752936	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5756746	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5764125	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5773842	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5786138	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5813978	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5876938	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5883727	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv5891666	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6000274	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6028801	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6068160	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6093628	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6186850	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6234209	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6236392	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6351108	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6430564	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6458212	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6468653	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742
essv6534993	Submitted genomic		NC_000004.11:g.(15 1874195_151874566) _(151886372_151886 742)del	GRCh37 (hg19)		NC_000004.11	Chr4	151,874,195	151,874,566	151,886,372	151,886,742

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5654860	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv5690327	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv6234209	7	SAMN00000476	SNP array	Probe signal intensity	Pass
essv6028801	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv5556008	7	SAMN00000482	SNP array	Probe signal intensity	Pass
essv6430564	7	SAMN00000549	SNP array	Probe signal intensity	Pass
essv5593202	7	SAMN00000565	SNP array	Probe signal intensity	Pass
essv6186850	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv5883727	7	SAMN00000572	SNP array	Probe signal intensity	Pass
essv6093628	7	SAMN00001578	SNP array	Probe signal intensity	Pass
essv6458212	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv6351108	7	SAMN00001584	SNP array	Probe signal intensity	Pass
essv6000274	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv6468653	7	SAMN00001587	SNP array	Probe signal intensity	Pass
essv6534993	7	SAMN00001590	SNP array	Probe signal intensity	Pass
essv5752936	7	SAMN00001591	SNP array	Probe signal intensity	Pass
essv5813978	7	SAMN00001623	SNP array	Probe signal intensity	Pass
essv5891666	7	SAMN00001624	SNP array	Probe signal intensity	Pass
essv5756746	7	SAMN00001627	SNP array	Probe signal intensity	Pass
essv5786138	7	SAMN00001628	SNP array	Probe signal intensity	Pass
essv5773842	7	SAMN00001665	SNP array	Probe signal intensity	Pass
essv6236392	7	SAMN00001667	SNP array	Probe signal intensity	Pass
essv5667071	7	SAMN00001671	SNP array	Probe signal intensity	Pass
essv6068160	7	SAMN00001684	SNP array	Probe signal intensity	Pass
essv5440470	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv5764125	7	SAMN00001688	SNP array	Probe signal intensity	Pass
essv5876938	7	SAMN00001691	SNP array	Probe signal intensity	Pass
essv5610489	7	SAMN00001693	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2675985

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