esv2659692

Organism: Homo sapiens

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

Variant Calls:20
Validation:Yes
Clinical Assertions: No
Region Size:8,163

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

Remapped(Score: Perfect):119,007,381-119,015,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659692	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
esv2659692	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	120,019,620	120,027,782

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5397410	deletion	SAMN00001592	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,597
essv5574069	deletion	SAMN00001677	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	896
essv5709476	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv5768019	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv5841494	deletion	SAMN00000483	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,009
essv5924773	deletion	SAMN00001688	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	843
essv5940706	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv5952677	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv5962597	deletion	SAMN00001664	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	794
essv6011395	deletion	SAMN00001679	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	908
essv6066553	deletion	SAMN00001626	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,427
essv6066756	deletion	SAMN00001663	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,745
essv6069583	deletion	SAMN00001585	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,431
essv6097488	deletion	SAMN00001582	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,248
essv6227758	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv6300960	deletion	SAMN00000574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,208
essv6326290	deletion	SAMN00001681	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	791
essv6366909	deletion	SAMN00001686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	807
essv6506274	deletion	SAMN00000566	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	947
essv6582330	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5397410	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5574069	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5709476	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5768019	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5841494	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5924773	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5940706	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5952677	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5962597	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6011395	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6066553	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6066756	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6069583	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6097488	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6227758	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6300960	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6326290	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6366909	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6506274	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv6582330	Remapped	Perfect	NC_000008.11:g.119 007381_119015543de lGGAAAT	GRCh38.p12	First Pass	NC_000008.11	Chr8	119,007,381	119,015,543
essv5397410	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5574069	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5709476	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5768019	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5841494	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5924773	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5940706	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5952677	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv5962597	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6011395	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6066553	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6066756	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6069583	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6097488	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6227758	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6300960	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6326290	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6366909	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6506274	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782
essv6582330	Submitted genomic		NC_000008.10:g.120 019620_120027782de lGGAAAT	GRCh37 (hg19)		NC_000008.10	Chr8	120,019,620	120,027,782

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5709476	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv6582330	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv6227758	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv5841494	7	SAMN00000483	SNP array	Probe signal intensity	Pass
essv5940706	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv6506274	7	SAMN00000566	SNP array	Probe signal intensity	Pass
essv6300960	7	SAMN00000574	SNP array	Probe signal intensity	Pass
essv5952677	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv6097488	7	SAMN00001582	SNP array	Probe signal intensity	Pass
essv6069583	7	SAMN00001585	SNP array	Probe signal intensity	Pass
essv5397410	7	SAMN00001592	SNP array	Probe signal intensity	Pass
essv6066553	7	SAMN00001626	SNP array	Probe signal intensity	Pass
essv5768019	7	SAMN00001631	SNP array	Probe signal intensity	Pass
essv6066756	7	SAMN00001663	SNP array	Probe signal intensity	Pass
essv5962597	7	SAMN00001664	SNP array	Probe signal intensity	Pass
essv5574069	7	SAMN00001677	SNP array	Probe signal intensity	Pass
essv6011395	7	SAMN00001679	SNP array	Probe signal intensity	Pass
essv6326290	7	SAMN00001681	SNP array	Probe signal intensity	Pass
essv6366909	7	SAMN00001686	SNP array	Probe signal intensity	Pass
essv5924773	7	SAMN00001688	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2659692

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