esv2668652

Organism: Homo sapiens

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

Variant Calls:25
Validation:Yes
Clinical Assertions: No
Region Size:12,348

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: 407 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):110,834,673-110,847,020

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
esv2668652	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
esv2668652	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5422530	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv5480505	deletion	SAMN00001673	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111
essv5510178	deletion	SAMN00000474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,357
essv5526948	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv5639021	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv5639960	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv5680214	deletion	SAMN00004417	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,314
essv5689915	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv5711892	deletion	SAMN00001693	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,362
essv5749425	deletion	SAMN00001691	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv5861819	deletion	SAMN00001577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,401
essv5887242	deletion	SAMN00000549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,136
essv5951415	deletion	SAMN00001626	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,427
essv6021646	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6067731	deletion	SAMN00000572	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,233
essv6082243	deletion	SAMN00001686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	807
essv6088992	deletion	SAMN00000566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	947
essv6159549	deletion	SAMN00001630	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,448
essv6247858	deletion	SAMN00000482	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	982
essv6297836	deletion	SAMN00001669	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6331378	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv6386340	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6407729	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6554144	deletion	SAMN00001588	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,394
essv6565870	deletion	SAMN00001587	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,494

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5422530	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5480505	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5510178	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5526948	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5639021	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5639960	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5680214	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5689915	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5711892	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5749425	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5861819	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5887242	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5951415	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6021646	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6067731	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6082243	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6088992	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6159549	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6247858	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6297836	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6331378	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6386340	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6407729	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6554144	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv6565870	Remapped	Perfect	NC_000001.11:g.(11 0834673_110835044) _(110846650_110847 020)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	110,834,673	110,835,044	110,846,650	110,847,020
essv5422530	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5480505	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5510178	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5526948	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5639021	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5639960	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5680214	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5689915	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5711892	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5749425	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5861819	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5887242	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv5951415	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6021646	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6067731	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6082243	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6088992	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6159549	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6247858	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6297836	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6331378	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6386340	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6407729	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6554144	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642
essv6565870	Submitted genomic		NC_000001.10:g.(11 1377295_111377666) _(111389272_111389 642)del	GRCh37 (hg19)		NC_000001.10	Chr1	111,377,295	111,377,666	111,389,272	111,389,642

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5639960	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv5510178	7	SAMN00000474	SNP array	Probe signal intensity	Pass
essv5689915	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv5526948	7	SAMN00000476	SNP array	Probe signal intensity	Pass
essv5422530	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv6247858	7	SAMN00000482	SNP array	Probe signal intensity	Pass
essv5887242	7	SAMN00000549	SNP array	Probe signal intensity	Pass
essv6386340	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv6088992	7	SAMN00000566	SNP array	Probe signal intensity	Pass
essv6067731	7	SAMN00000572	SNP array	Probe signal intensity	Pass
essv5861819	7	SAMN00001577	SNP array	Probe signal intensity	Pass
essv6565870	7	SAMN00001587	SNP array	Probe signal intensity	Pass
essv6554144	7	SAMN00001588	SNP array	Probe signal intensity	Pass
essv5639021	7	SAMN00001591	SNP array	Probe signal intensity	Pass
essv5951415	7	SAMN00001626	SNP array	Probe signal intensity	Pass
essv6021646	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv6159549	7	SAMN00001630	SNP array	Probe signal intensity	Pass
essv6331378	7	SAMN00001632	SNP array	Probe signal intensity	Pass
essv6297836	7	SAMN00001669	SNP array	Probe signal intensity	Pass
essv5480505	7	SAMN00001673	SNP array	Probe signal intensity	Pass
essv6407729	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv6082243	7	SAMN00001686	SNP array	Probe signal intensity	Pass
essv5749425	7	SAMN00001691	SNP array	Probe signal intensity	Pass
essv5711892	7	SAMN00001693	SNP array	Probe signal intensity	Pass
essv5680214	7	SAMN00004417	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2668652

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