esv2674748

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:60,950

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

Remapped(Score: Good):41,134,440-41,195,389

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
esv2674748	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
esv2674748	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5449238	deletion	SAMN00801027	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,224
essv5497781	deletion	SAMN00801051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,119
essv5563775	deletion	SAMN00801031	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv5646659	deletion	SAMN00801485	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,032
essv5673952	deletion	SAMN00801704	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,168
essv5692608	deletion	SAMN00800831	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,297
essv5722620	deletion	SAMN00801055	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,073
essv5739499	deletion	SAMN00000811	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	958
essv5833869	deletion	SAMN00801908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,014
essv5914014	deletion	SAMN00801099	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,046
essv5915009	deletion	SAMN00801418	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	808
essv5952498	deletion	SAMN00801802	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,214
essv6014534	deletion	SAMN00801105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,002
essv6022956	deletion	SAMN00000403	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	878
essv6032754	deletion	SAMN00801770	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	808
essv6096124	deletion	SAMN00801708	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,228
essv6132264	deletion	SAMN00001534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	984
essv6135316	deletion	SAMN00801317	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,196
essv6156759	deletion	SAMN00000411	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	869
essv6222607	deletion	SAMN00001546	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,146
essv6238234	deletion	SAMN00801738	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	969
essv6257744	deletion	SAMN00801237	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,374
essv6287186	deletion	SAMN00001538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,072
essv6294751	deletion	SAMN00801680	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,030
essv6339993	deletion	SAMN00800837	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	356
essv6372749	deletion	SAMN00801420	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,042
essv6479362	deletion	SAMN00801684	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,182
essv6491428	deletion	SAMN00801804	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	979
essv6504018	deletion	SAMN00801126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,185
essv6565736	deletion	SAMN00000413	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864
essv6587270	deletion	SAMN00801602	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,033
essv6587988	deletion	SAMN00801029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,068

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5449238	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5497781	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5563775	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5646659	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5673952	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5692608	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5722620	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5739499	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5833869	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5914014	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5915009	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5952498	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6014534	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6022956	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6032754	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6096124	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6132264	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6135316	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6156759	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6222607	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6238234	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6257744	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6287186	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6294751	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6339993	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6372749	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6479362	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6491428	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6504018	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6565736	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6587270	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv6587988	Remapped	Good	NC_000014.9:g.(411 34440_41134440)_(4 1195389_41195389)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,134,440	41,134,440	41,195,389	41,195,389
essv5449238	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5497781	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5563775	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5646659	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5673952	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5692608	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5722620	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5739499	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5833869	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5914014	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5915009	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv5952498	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6014534	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6022956	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6032754	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6096124	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6132264	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6135316	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6156759	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6222607	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6238234	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6257744	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6287186	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6294751	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6339993	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6372749	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6479362	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6491428	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6504018	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6565736	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6587270	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592
essv6587988	Submitted genomic		NC_000014.8:g.(416 03645_41604016)_(4 1664222_41664592)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,603,645	41,604,016	41,664,222	41,664,592

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6022956	7	SAMN00000403	SNP array	Probe signal intensity	Pass
essv6156759	7	SAMN00000411	SNP array	Probe signal intensity	Pass
essv6565736	7	SAMN00000413	SNP array	Probe signal intensity	Pass
essv5739499	7	SAMN00000811	SNP array	Probe signal intensity	Pass
essv6132264	7	SAMN00001534	SNP array	Probe signal intensity	Pass
essv6287186	7	SAMN00001538	SNP array	Probe signal intensity	Pass
essv6222607	7	SAMN00001546	SNP array	Probe signal intensity	Pass
essv5692608	7	SAMN00800831	SNP array	Probe signal intensity	Pass
essv6339993	7	SAMN00800837	SNP array	Probe signal intensity	Pass
essv5449238	7	SAMN00801027	SNP array	Probe signal intensity	Pass
essv6587988	7	SAMN00801029	SNP array	Probe signal intensity	Pass
essv5563775	7	SAMN00801031	SNP array	Probe signal intensity	Pass
essv5497781	7	SAMN00801051	SNP array	Probe signal intensity	Pass
essv5722620	7	SAMN00801055	SNP array	Probe signal intensity	Pass
essv5914014	7	SAMN00801099	SNP array	Probe signal intensity	Pass
essv6014534	7	SAMN00801105	SNP array	Probe signal intensity	Pass
essv6504018	7	SAMN00801126	SNP array	Probe signal intensity	Pass
essv6257744	7	SAMN00801237	SNP array	Probe signal intensity	Pass
essv6135316	7	SAMN00801317	SNP array	Probe signal intensity	Pass
essv5915009	7	SAMN00801418	SNP array	Probe signal intensity	Pass
essv6372749	7	SAMN00801420	SNP array	Probe signal intensity	Pass
essv5646659	7	SAMN00801485	SNP array	Probe signal intensity	Pass
essv6587270	7	SAMN00801602	SNP array	Probe signal intensity	Pass
essv6294751	7	SAMN00801680	SNP array	Probe signal intensity	Pass
essv6479362	7	SAMN00801684	SNP array	Probe signal intensity	Pass
essv5673952	7	SAMN00801704	SNP array	Probe signal intensity	Pass
essv6096124	7	SAMN00801708	SNP array	Probe signal intensity	Pass
essv6238234	7	SAMN00801738	SNP array	Probe signal intensity	Pass
essv6032754	7	SAMN00801770	SNP array	Probe signal intensity	Pass
essv5952498	7	SAMN00801802	SNP array	Probe signal intensity	Pass
essv6491428	7	SAMN00801804	SNP array	Probe signal intensity	Pass
essv5833869	7	SAMN00801908	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2674748

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