esv2677243

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:2,207

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: 235 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):108,223,721-108,225,927

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2677243	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
esv2677243	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	109,235,950	109,238,156

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5463350	deletion	SAMN00001163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,404
essv5537147	deletion	SAMN00001172	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,516
essv5550936	deletion	SAMN00001681	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	791
essv5570788	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv5632342	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv5664048	deletion	SAMN00001125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5666688	deletion	SAMN00001182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv5678871	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882
essv5680576	deletion	SAMN00001188	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,129
essv5715258	deletion	SAMN00001133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,480
essv5726106	deletion	SAMN00014329	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,635
essv5832089	deletion	SAMN00001695	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,174
essv5858776	deletion	SAMN00001178	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,252
essv5866000	deletion	SAMN00007823	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,287
essv5965310	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv6040006	deletion	SAMN00001136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,695
essv6083380	deletion	SAMN00001166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv6133914	deletion	SAMN00001696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,202
essv6257439	deletion	SAMN00007737	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,715
essv6263561	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6277110	deletion	SAMN00007700	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,460
essv6302794	deletion	SAMN00007856	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	851
essv6450118	deletion	SAMN00001589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,492
essv6521378	deletion	SAMN00014312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv6535051	deletion	SAMN00001625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5463350	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5537147	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5550936	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5570788	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5632342	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5664048	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5666688	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5678871	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5680576	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5715258	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5726106	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5832089	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5858776	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5866000	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5965310	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6040006	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6083380	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6133914	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6257439	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6263561	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6277110	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6302794	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6450118	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6521378	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv6535051	Remapped	Perfect	NC_000008.11:g.108 223721_108225927de lC	GRCh38.p12	First Pass	NC_000008.11	Chr8	108,223,721	108,225,927
essv5463350	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5537147	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5550936	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5570788	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5632342	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5664048	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5666688	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5678871	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5680576	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5715258	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5726106	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5832089	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5858776	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5866000	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv5965310	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6040006	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6083380	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6133914	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6257439	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6263561	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6277110	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6302794	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6450118	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6521378	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156
essv6535051	Submitted genomic		NC_000008.10:g.109 235950_109238156de lC	GRCh37 (hg19)		NC_000008.10	Chr8	109,235,950	109,238,156

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5965310	9	SAMN00000478	Oligo aCGH	Probe signal intensity	Pass
essv5664048	9	SAMN00001125	Oligo aCGH	Probe signal intensity	Pass
essv5715258	9	SAMN00001133	Oligo aCGH	Probe signal intensity	Pass
essv6040006	9	SAMN00001136	Oligo aCGH	Probe signal intensity	Pass
essv5463350	9	SAMN00001163	Oligo aCGH	Probe signal intensity	Pass
essv6083380	9	SAMN00001166	Oligo aCGH	Probe signal intensity	Pass
essv5537147	9	SAMN00001172	Oligo aCGH	Probe signal intensity	Pass
essv5858776	9	SAMN00001178	Oligo aCGH	Probe signal intensity	Pass
essv5666688	9	SAMN00001182	Oligo aCGH	Probe signal intensity	Pass
essv5680576	9	SAMN00001188	Oligo aCGH	Probe signal intensity	Pass
essv5678871	9	SAMN00001576	Oligo aCGH	Probe signal intensity	Pass
essv5570788	9	SAMN00001586	Oligo aCGH	Probe signal intensity	Pass
essv6450118	9	SAMN00001589	Oligo aCGH	Probe signal intensity	Pass
essv6535051	9	SAMN00001625	Oligo aCGH	Probe signal intensity	Pass
essv6263561	9	SAMN00001629	Oligo aCGH	Probe signal intensity	Pass
essv5632342	9	SAMN00001631	Oligo aCGH	Probe signal intensity	Pass
essv5550936	9	SAMN00001681	Oligo aCGH	Probe signal intensity	Pass
essv5832089	9	SAMN00001695	Oligo aCGH	Probe signal intensity	Pass
essv6133914	9	SAMN00001696	Oligo aCGH	Probe signal intensity	Pass
essv6277110	9	SAMN00007700	Oligo aCGH	Probe signal intensity	Pass
essv6257439	9	SAMN00007737	Oligo aCGH	Probe signal intensity	Pass
essv5866000	9	SAMN00007823	Oligo aCGH	Probe signal intensity	Pass
essv6302794	9	SAMN00007856	Oligo aCGH	Probe signal intensity	Pass
essv6521378	9	SAMN00014312	Oligo aCGH	Probe signal intensity	Pass
essv5726106	9	SAMN00014329	Oligo aCGH	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2677243

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