esv2657507

Organism: Homo sapiens

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

Variant Calls:27
Validation:Yes
Clinical Assertions: No
Region Size:9,198

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: 232 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):10,309,411-10,318,608

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2657507	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
esv2657507	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	10,369,469	10,378,666

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5408544	deletion	SAMN00007717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,210
essv5415425	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv5621291	deletion	SAMN00001125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5686174	deletion	SAMN00000574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,208
essv5703986	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv5788710	deletion	SAMN00007737	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,715
essv5958414	deletion	SAMN00000474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,357
essv6032068	deletion	SAMN00001584	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421
essv6049359	deletion	SAMN00001585	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,431
essv6142163	deletion	SAMN00001579	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,501
essv6197273	deletion	SAMN00001694	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,132
essv6232622	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv6304472	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv6315385	deletion	SAMN00001171	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,122
essv6334780	deletion	SAMN00001131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,611
essv6351408	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv6365915	deletion	SAMN00001183	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,354
essv6391440	deletion	SAMN00001162	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,432
essv6409473	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6438243	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6440119	deletion	SAMN00001148	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv6457207	deletion	SAMN00007740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,557
essv6470107	deletion	SAMN00007804	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,764
essv6497190	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451
essv6523702	deletion	SAMN00001177	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,531
essv6575060	deletion	SAMN00000571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,271
essv6579722	deletion	SAMN00001126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5408544	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5415425	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5621291	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5686174	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5703986	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5788710	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5958414	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6032068	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6049359	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6142163	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6197273	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6232622	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6304472	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6315385	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6334780	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6351408	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6365915	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6391440	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6409473	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6438243	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6440119	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6457207	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6470107	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6497190	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6523702	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6575060	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv6579722	Remapped	Perfect	NC_000001.11:g.103 09411_10318608delC ATCAGTGT	GRCh38.p12	First Pass	NC_000001.11	Chr1	10,309,411	10,318,608
essv5408544	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5415425	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5621291	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5686174	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5703986	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5788710	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv5958414	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6032068	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6049359	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6142163	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6197273	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6232622	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6304472	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6315385	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6334780	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6351408	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6365915	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6391440	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6409473	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6438243	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6440119	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6457207	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6470107	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6497190	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6523702	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6575060	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666
essv6579722	Submitted genomic		NC_000001.10:g.103 69469_10378666delC ATCAGTGT	GRCh37 (hg19)		NC_000001.10	Chr1	10,369,469	10,378,666

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5958414	9	SAMN00000474	Oligo aCGH	Probe signal intensity	Pass
essv6304472	9	SAMN00000475	Oligo aCGH	Probe signal intensity	Pass
essv5703986	9	SAMN00000478	Oligo aCGH	Probe signal intensity	Pass
essv6409473	9	SAMN00000555	Oligo aCGH	Probe signal intensity	Pass
essv5415425	9	SAMN00000568	Oligo aCGH	Probe signal intensity	Pass
essv6575060	9	SAMN00000571	Oligo aCGH	Probe signal intensity	Pass
essv5686174	9	SAMN00000574	Oligo aCGH	Probe signal intensity	Pass
essv5621291	9	SAMN00001125	Oligo aCGH	Probe signal intensity	Pass
essv6579722	9	SAMN00001126	Oligo aCGH	Probe signal intensity	Pass
essv6334780	9	SAMN00001131	Oligo aCGH	Probe signal intensity	Pass
essv6440119	9	SAMN00001148	Oligo aCGH	Probe signal intensity	Pass
essv6391440	9	SAMN00001162	Oligo aCGH	Probe signal intensity	Pass
essv6315385	9	SAMN00001171	Oligo aCGH	Probe signal intensity	Pass
essv6523702	9	SAMN00001177	Oligo aCGH	Probe signal intensity	Pass
essv6365915	9	SAMN00001183	Oligo aCGH	Probe signal intensity	Pass
essv6142163	9	SAMN00001579	Oligo aCGH	Probe signal intensity	Pass
essv6438243	9	SAMN00001580	Oligo aCGH	Probe signal intensity	Pass
essv6351408	9	SAMN00001581	Oligo aCGH	Probe signal intensity	Pass
essv6497190	9	SAMN00001583	Oligo aCGH	Probe signal intensity	Pass
essv6032068	9	SAMN00001584	Oligo aCGH	Probe signal intensity	Pass
essv6049359	9	SAMN00001585	Oligo aCGH	Probe signal intensity	Pass
essv6232622	9	SAMN00001631	Oligo aCGH	Probe signal intensity	Pass
essv6197273	9	SAMN00001694	Oligo aCGH	Probe signal intensity	Pass
essv5408544	9	SAMN00007717	Oligo aCGH	Probe signal intensity	Pass
essv5788710	9	SAMN00007737	Oligo aCGH	Probe signal intensity	Pass
essv6457207	9	SAMN00007740	Oligo aCGH	Probe signal intensity	Pass
essv6470107	9	SAMN00007804	Oligo aCGH	Probe signal intensity	Pass
essv5958414	7	SAMN00000474	SNP array	Probe signal intensity	Pass
essv6304472	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv5703986	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv6409473	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv5415425	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv6575060	7	SAMN00000571	SNP array	Probe signal intensity	Pass
essv5686174	7	SAMN00000574	SNP array	Probe signal intensity	Pass
essv5621291	7	SAMN00001125	SNP array	Probe signal intensity	Pass
essv6579722	7	SAMN00001126	SNP array	Probe signal intensity	Pass
essv6334780	7	SAMN00001131	SNP array	Probe signal intensity	Pass
essv6440119	7	SAMN00001148	SNP array	Probe signal intensity	Pass
essv6391440	7	SAMN00001162	SNP array	Probe signal intensity	Pass
essv6315385	7	SAMN00001171	SNP array	Probe signal intensity	Pass
essv6523702	7	SAMN00001177	SNP array	Probe signal intensity	Pass
essv6365915	7	SAMN00001183	SNP array	Probe signal intensity	Pass
essv6142163	7	SAMN00001579	SNP array	Probe signal intensity	Pass
essv6438243	7	SAMN00001580	SNP array	Probe signal intensity	Pass
essv6351408	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv6497190	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv6032068	7	SAMN00001584	SNP array	Probe signal intensity	Pass
essv6049359	7	SAMN00001585	SNP array	Probe signal intensity	Pass
essv6232622	7	SAMN00001631	SNP array	Probe signal intensity	Pass
essv6197273	7	SAMN00001694	SNP array	Probe signal intensity	Pass
essv5408544	7	SAMN00007717	SNP array	Probe signal intensity	Pass
essv5788710	7	SAMN00007737	SNP array	Probe signal intensity	Pass
essv6457207	7	SAMN00007740	SNP array	Probe signal intensity	Pass
essv6470107	7	SAMN00007804	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2657507

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