esv2656629

Organism: Homo sapiens

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

Variant Calls:32
Validation:Yes
Clinical Assertions: No
Region Size:3,751

Description:High quality site
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: 427 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):73,946,227-73,949,977

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2656629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
esv2656629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	73,166,062	73,169,812

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5425122	deletion	SAMN00007823	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,287
essv5449782	deletion	SAMN00007764	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	883
essv5452580	deletion	SAMN00000479	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv5525179	deletion	SAMN00007803	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,683
essv5527644	deletion	SAMN00001188	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,129
essv5548667	deletion	SAMN00007710	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,414
essv5549527	deletion	SAMN00001147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,637
essv5612644	deletion	SAMN00001591	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,475
essv5651076	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv5672964	deletion	SAMN00007843	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	841
essv5689428	deletion	SAMN00001193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,179
essv5787229	deletion	SAMN00014335	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,607
essv5829669	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv5859888	deletion	SAMN00007845	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	836
essv5917216	deletion	SAMN00014324	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,596
essv5963142	deletion	SAMN00001578	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,497
essv5964045	deletion	SAMN00001163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,404
essv5987679	deletion	SAMN00001141	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,524
essv6058349	deletion	SAMN00001158	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,358
essv6067195	deletion	SAMN00014396	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	814
essv6097784	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882
essv6121558	deletion	SAMN00009171	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,640
essv6126559	deletion	SAMN00001190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6329840	deletion	SAMN00007812	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv6340667	deletion	SAMN00009187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,487
essv6400429	deletion	SAMN00001121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,383
essv6423098	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6473077	deletion	SAMN00007728	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,156
essv6493782	deletion	SAMN00001185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,819
essv6509234	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6539742	deletion	SAMN00001189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,771
essv6590512	deletion	SAMN00001103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,547

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5425122	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5449782	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5452580	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5525179	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5527644	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5548667	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5549527	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5612644	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5651076	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5672964	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5689428	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5787229	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5829669	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5859888	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5917216	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5963142	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5964045	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5987679	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6058349	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6067195	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6097784	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6121558	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6126559	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6329840	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6340667	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6400429	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6423098	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6473077	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6493782	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6509234	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6539742	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv6590512	Remapped	Perfect	NC_000023.11:g.739 46227_73949977delG	GRCh38.p12	First Pass	NC_000023.11	ChrX	73,946,227	73,949,977
essv5425122	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5449782	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5452580	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5525179	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5527644	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5548667	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5549527	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5612644	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5651076	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5672964	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5689428	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5787229	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5829669	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5859888	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5917216	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5963142	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5964045	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv5987679	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6058349	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6067195	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6097784	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6121558	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6126559	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6329840	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6340667	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6400429	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6423098	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6473077	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6493782	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6509234	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6539742	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812
essv6590512	Submitted genomic		NC_000023.10:g.731 66062_73169812delG	GRCh37 (hg19)		NC_000023.10	ChrX	73,166,062	73,169,812

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5651076	9	SAMN00000476	Oligo aCGH	Probe signal intensity	Pass
essv5452580	9	SAMN00000479	Oligo aCGH	Probe signal intensity	Pass
essv6423098	9	SAMN00000555	Oligo aCGH	Probe signal intensity	Pass
essv6590512	9	SAMN00001103	Oligo aCGH	Probe signal intensity	Pass
essv6400429	9	SAMN00001121	Oligo aCGH	Probe signal intensity	Pass
essv5829669	9	SAMN00001127	Oligo aCGH	Probe signal intensity	Pass
essv5987679	9	SAMN00001141	Oligo aCGH	Probe signal intensity	Pass
essv5549527	9	SAMN00001147	Oligo aCGH	Probe signal intensity	Pass
essv6058349	9	SAMN00001158	Oligo aCGH	Probe signal intensity	Pass
essv5964045	9	SAMN00001163	Oligo aCGH	Probe signal intensity	Pass
essv6493782	9	SAMN00001185	Oligo aCGH	Probe signal intensity	Pass
essv5527644	9	SAMN00001188	Oligo aCGH	Probe signal intensity	Pass
essv6539742	9	SAMN00001189	Oligo aCGH	Probe signal intensity	Pass
essv6126559	9	SAMN00001190	Oligo aCGH	Probe signal intensity	Pass
essv5689428	9	SAMN00001193	Oligo aCGH	Probe signal intensity	Pass
essv6097784	9	SAMN00001576	Oligo aCGH	Probe signal intensity	Pass
essv5963142	9	SAMN00001578	Oligo aCGH	Probe signal intensity	Pass
essv6509234	9	SAMN00001580	Oligo aCGH	Probe signal intensity	Pass
essv5612644	9	SAMN00001591	Oligo aCGH	Probe signal intensity	Pass
essv5548667	9	SAMN00007710	Oligo aCGH	Probe signal intensity	Pass
essv6473077	9	SAMN00007728	Oligo aCGH	Probe signal intensity	Pass
essv5449782	9	SAMN00007764	Oligo aCGH	Probe signal intensity	Pass
essv5525179	9	SAMN00007803	Oligo aCGH	Probe signal intensity	Pass
essv6329840	9	SAMN00007812	Oligo aCGH	Probe signal intensity	Pass
essv5425122	9	SAMN00007823	Oligo aCGH	Probe signal intensity	Pass
essv5672964	9	SAMN00007843	Oligo aCGH	Probe signal intensity	Pass
essv5859888	9	SAMN00007845	Oligo aCGH	Probe signal intensity	Pass
essv6121558	9	SAMN00009171	Oligo aCGH	Probe signal intensity	Pass
essv6340667	9	SAMN00009187	Oligo aCGH	Probe signal intensity	Pass
essv5917216	9	SAMN00014324	Oligo aCGH	Probe signal intensity	Pass
essv5787229	9	SAMN00014335	Oligo aCGH	Probe signal intensity	Pass
essv6067195	9	SAMN00014396	Oligo aCGH	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2656629

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