esv2657410

Organism: Homo sapiens

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

Variant Calls:26
Validation:Yes
Clinical Assertions: No
Region Size:9,248

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: 313 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):19,040,814-19,050,061

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
esv2657410	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
esv2657410	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5428202	deletion	SAMN00801356	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	966
essv5445480	deletion	SAMN00801051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,119
essv5480339	deletion	SAMN00800945	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,287
essv5485213	deletion	SAMN00801027	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,224
essv5499529	deletion	SAMN00801602	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,033
essv5519958	deletion	SAMN00801804	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	979
essv5525712	deletion	SAMN00000410	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,104
essv5558356	deletion	SAMN00797025	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv5588551	deletion	SAMN00801029	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,068
essv5605373	deletion	SAMN00800837	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	356
essv5673762	deletion	SAMN00801031	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv5691224	deletion	SAMN00801241	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	942
essv5695317	deletion	SAMN00000403	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	878
essv5711079	deletion	SAMN00001529	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	957
essv5821705	deletion	SAMN00001564	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	918
essv5883408	deletion	SAMN00801420	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,042
essv6079468	deletion	SAMN00001538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,072
essv6088517	deletion	SAMN00801434	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	885
essv6117781	deletion	SAMN00801105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,002
essv6135802	deletion	SAMN00801646	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,154
essv6180325	deletion	SAMN00801509	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	923
essv6209276	deletion	SAMN00001515	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	791
essv6290472	deletion	SAMN00801680	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,030
essv6327938	deletion	SAMN00800973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	975
essv6343204	deletion	SAMN00001569	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	948
essv6503686	deletion	SAMN00801432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,006

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5428202	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5445480	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5480339	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5485213	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5499529	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5519958	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5525712	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5558356	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5588551	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5605373	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5673762	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5691224	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5695317	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5711079	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5821705	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5883408	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6079468	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6088517	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6117781	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6135802	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6180325	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6209276	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6290472	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6327938	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6343204	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv6503686	Remapped	Perfect	NC_000006.12:g.(19 040814_19041185)_( 19049691_19050061) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	19,040,814	19,041,185	19,049,691	19,050,061
essv5428202	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5445480	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5480339	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5485213	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5499529	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5519958	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5525712	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5558356	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5588551	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5605373	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5673762	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5691224	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5695317	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5711079	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5821705	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv5883408	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6079468	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6088517	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6117781	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6135802	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6180325	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6209276	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6290472	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6327938	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6343204	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292
essv6503686	Submitted genomic		NC_000006.11:g.(19 041045_19041416)_( 19049922_19050292) del	GRCh37 (hg19)		NC_000006.11	Chr6	19,041,045	19,041,416	19,049,922	19,050,292

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5695317	7	SAMN00000403	SNP array	Probe signal intensity	Pass
essv5525712	7	SAMN00000410	SNP array	Probe signal intensity	Pass
essv6209276	7	SAMN00001515	SNP array	Probe signal intensity	Pass
essv5711079	7	SAMN00001529	SNP array	Probe signal intensity	Pass
essv6079468	7	SAMN00001538	SNP array	Probe signal intensity	Pass
essv5821705	7	SAMN00001564	SNP array	Probe signal intensity	Pass
essv6343204	7	SAMN00001569	SNP array	Probe signal intensity	Pass
essv5558356	7	SAMN00797025	SNP array	Probe signal intensity	Pass
essv5605373	7	SAMN00800837	SNP array	Probe signal intensity	Pass
essv5480339	7	SAMN00800945	SNP array	Probe signal intensity	Pass
essv6327938	7	SAMN00800973	SNP array	Probe signal intensity	Pass
essv5485213	7	SAMN00801027	SNP array	Probe signal intensity	Pass
essv5588551	7	SAMN00801029	SNP array	Probe signal intensity	Pass
essv5673762	7	SAMN00801031	SNP array	Probe signal intensity	Pass
essv5445480	7	SAMN00801051	SNP array	Probe signal intensity	Pass
essv6117781	7	SAMN00801105	SNP array	Probe signal intensity	Pass
essv5691224	7	SAMN00801241	SNP array	Probe signal intensity	Pass
essv5428202	7	SAMN00801356	SNP array	Probe signal intensity	Pass
essv5883408	7	SAMN00801420	SNP array	Probe signal intensity	Pass
essv6503686	7	SAMN00801432	SNP array	Probe signal intensity	Pass
essv6088517	7	SAMN00801434	SNP array	Probe signal intensity	Pass
essv6180325	7	SAMN00801509	SNP array	Probe signal intensity	Pass
essv5499529	7	SAMN00801602	SNP array	Probe signal intensity	Pass
essv6135802	7	SAMN00801646	SNP array	Probe signal intensity	Pass
essv6290472	7	SAMN00801680	SNP array	Probe signal intensity	Pass
essv5519958	7	SAMN00801804	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2657410

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