esv2664372

Organism: Homo sapiens

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

Variant Calls:30
Validation:Yes
Clinical Assertions: No
Region Size:61,248

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: 677 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):41,139,442-41,200,689

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
esv2664372	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
esv2664372	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5400556	deletion	SAMN00007765	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	811
essv5427653	deletion	SAMN00007777	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	883
essv5437685	deletion	SAMN00007786	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,118
essv5515365	deletion	SAMN00007767	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	862
essv5544995	deletion	SAMN00007759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	815
essv5550050	deletion	SAMN00007774	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	832
essv5615578	deletion	SAMN00007707	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,115
essv5758736	deletion	SAMN00007728	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,156
essv5797643	deletion	SAMN00007794	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	823
essv5801536	deletion	SAMN00007704	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,133
essv5839735	deletion	SAMN00007792	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,081
essv5868051	deletion	SAMN00007756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,140
essv5871562	deletion	SAMN00007717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,210
essv5885452	deletion	SAMN00007731	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv5942447	deletion	SAMN00007761	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	963
essv6020276	deletion	SAMN00007762	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	769
essv6040954	deletion	SAMN00007705	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,063
essv6051463	deletion	SAMN00007755	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,123
essv6062300	deletion	SAMN00007782	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	817
essv6148605	deletion	SAMN00007795	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv6180153	deletion	SAMN00007758	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	761
essv6197268	deletion	SAMN00007713	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	994
essv6203301	deletion	SAMN00007747	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,108
essv6208083	deletion	SAMN00007773	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv6361760	deletion	SAMN00007788	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,169
essv6411072	deletion	SAMN00007776	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	831
essv6494832	deletion	SAMN00007753	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,117
essv6513485	deletion	SAMN00007771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	780
essv6530193	deletion	SAMN00007791	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,181
essv6562772	deletion	SAMN00007729	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,132

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5400556	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5427653	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5437685	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5515365	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5544995	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5550050	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5615578	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5758736	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5797643	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5801536	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5839735	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5868051	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5871562	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5885452	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5942447	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6020276	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6040954	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6051463	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6062300	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6148605	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6180153	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6197268	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6203301	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6208083	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6361760	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6411072	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6494832	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6513485	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6530193	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv6562772	Remapped	Perfect	NC_000014.9:g.(411 39442_41139813)_(4 1200319_41200689)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,442	41,139,813	41,200,319	41,200,689
essv5400556	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5427653	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5437685	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5515365	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5544995	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5550050	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5615578	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5758736	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5797643	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5801536	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5839735	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5868051	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5871562	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5885452	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv5942447	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6020276	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6040954	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6051463	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6062300	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6148605	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6180153	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6197268	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6203301	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6208083	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6361760	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6411072	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6494832	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6513485	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6530193	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892
essv6562772	Submitted genomic		NC_000014.8:g.(416 08645_41609016)_(4 1669522_41669892)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,645	41,609,016	41,669,522	41,669,892

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5801536	7	SAMN00007704	SNP array	Probe signal intensity	Pass
essv6040954	7	SAMN00007705	SNP array	Probe signal intensity	Pass
essv5615578	7	SAMN00007707	SNP array	Probe signal intensity	Pass
essv6197268	7	SAMN00007713	SNP array	Probe signal intensity	Pass
essv5871562	7	SAMN00007717	SNP array	Probe signal intensity	Pass
essv5758736	7	SAMN00007728	SNP array	Probe signal intensity	Pass
essv6562772	7	SAMN00007729	SNP array	Probe signal intensity	Pass
essv5885452	7	SAMN00007731	SNP array	Probe signal intensity	Pass
essv6203301	7	SAMN00007747	SNP array	Probe signal intensity	Pass
essv6494832	7	SAMN00007753	SNP array	Probe signal intensity	Pass
essv6051463	7	SAMN00007755	SNP array	Probe signal intensity	Pass
essv5868051	7	SAMN00007756	SNP array	Probe signal intensity	Pass
essv6180153	7	SAMN00007758	SNP array	Probe signal intensity	Pass
essv5544995	7	SAMN00007759	SNP array	Probe signal intensity	Pass
essv5942447	7	SAMN00007761	SNP array	Probe signal intensity	Pass
essv6020276	7	SAMN00007762	SNP array	Probe signal intensity	Pass
essv5400556	7	SAMN00007765	SNP array	Probe signal intensity	Pass
essv5515365	7	SAMN00007767	SNP array	Probe signal intensity	Pass
essv6513485	7	SAMN00007771	SNP array	Probe signal intensity	Pass
essv6208083	7	SAMN00007773	SNP array	Probe signal intensity	Pass
essv5550050	7	SAMN00007774	SNP array	Probe signal intensity	Pass
essv6411072	7	SAMN00007776	SNP array	Probe signal intensity	Pass
essv5427653	7	SAMN00007777	SNP array	Probe signal intensity	Pass
essv6062300	7	SAMN00007782	SNP array	Probe signal intensity	Pass
essv5437685	7	SAMN00007786	SNP array	Probe signal intensity	Pass
essv6361760	7	SAMN00007788	SNP array	Probe signal intensity	Pass
essv6530193	7	SAMN00007791	SNP array	Probe signal intensity	Pass
essv5839735	7	SAMN00007792	SNP array	Probe signal intensity	Pass
essv5797643	7	SAMN00007794	SNP array	Probe signal intensity	Pass
essv6148605	7	SAMN00007795	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2664372

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