esv2663816

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:25,384

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: 435 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):89,344,873-89,370,256

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2663816	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
esv2663816	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	89,394,023	89,419,406

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5511795	deletion	SAMN00014330	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,706
essv5521129	deletion	SAMN00001277	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	830
essv5597188	deletion	SAMN00009140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,417
essv5617537	deletion	SAMN00006355	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,190
essv5629202	deletion	SAMN00009189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,058
essv5714965	deletion	SAMN00009195	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,350
essv5788940	deletion	SAMN00007714	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,155
essv5792378	deletion	SAMN00006358	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,609
essv5809751	deletion	SAMN00006601	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	788
essv5841141	deletion	SAMN00007788	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,169
essv5986428	deletion	SAMN00000453	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	917
essv6111589	deletion	SAMN00014314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,733
essv6162917	deletion	SAMN00007701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028
essv6183837	deletion	SAMN00006393	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,630
essv6272911	deletion	SAMN00004658	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,548
essv6296007	deletion	SAMN00006397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,554
essv6345986	deletion	SAMN00001256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	800
essv6374297	deletion	SAMN00014329	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,635
essv6398298	deletion	SAMN00001295	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	922
essv6439683	deletion	SAMN00006416	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,037
essv6467936	deletion	SAMN00001246	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	935
essv6491318	deletion	SAMN00006405	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,586
essv6571002	deletion	SAMN00000420	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,470
essv6574546	deletion	SAMN00001294	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	761
essv6597253	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5511795	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5521129	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5597188	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5617537	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5629202	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5714965	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5788940	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5792378	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5809751	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5841141	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5986428	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6111589	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6162917	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6183837	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6272911	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6296007	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6345986	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6374297	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6398298	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6439683	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6467936	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6491318	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6571002	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6574546	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv6597253	Remapped	Perfect	NC_000003.12:g.893 44873_89370256delT	GRCh38.p12	First Pass	NC_000003.12	Chr3	89,344,873	89,370,256
essv5511795	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5521129	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5597188	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5617537	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5629202	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5714965	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5788940	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5792378	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5809751	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5841141	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv5986428	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6111589	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6162917	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6183837	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6272911	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6296007	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6345986	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6374297	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6398298	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6439683	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6467936	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6491318	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6571002	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6574546	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406
essv6597253	Submitted genomic		NC_000003.11:g.893 94023_89419406delT	GRCh37 (hg19)		NC_000003.11	Chr3	89,394,023	89,419,406

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6571002	7	SAMN00000420	SNP array	Probe signal intensity	Pass
essv5986428	7	SAMN00000453	SNP array	Probe signal intensity	Pass
essv6467936	7	SAMN00001246	SNP array	Probe signal intensity	Pass
essv6345986	7	SAMN00001256	SNP array	Probe signal intensity	Pass
essv5521129	7	SAMN00001277	SNP array	Probe signal intensity	Pass
essv6574546	7	SAMN00001294	SNP array	Probe signal intensity	Pass
essv6398298	7	SAMN00001295	SNP array	Probe signal intensity	Pass
essv6272911	7	SAMN00004658	SNP array	Probe signal intensity	Pass
essv5617537	7	SAMN00006355	SNP array	Probe signal intensity	Pass
essv5792378	7	SAMN00006358	SNP array	Probe signal intensity	Pass
essv6183837	7	SAMN00006393	SNP array	Probe signal intensity	Pass
essv6296007	7	SAMN00006397	SNP array	Probe signal intensity	Pass
essv6491318	7	SAMN00006405	SNP array	Probe signal intensity	Pass
essv6439683	7	SAMN00006416	SNP array	Probe signal intensity	Pass
essv5809751	7	SAMN00006601	SNP array	Probe signal intensity	Pass
essv6162917	7	SAMN00007701	SNP array	Probe signal intensity	Pass
essv5788940	7	SAMN00007714	SNP array	Probe signal intensity	Pass
essv5841141	7	SAMN00007788	SNP array	Probe signal intensity	Pass
essv6597253	7	SAMN00009117	SNP array	Probe signal intensity	Pass
essv5597188	7	SAMN00009140	SNP array	Probe signal intensity	Pass
essv5629202	7	SAMN00009189	SNP array	Probe signal intensity	Pass
essv5714965	7	SAMN00009195	SNP array	Probe signal intensity	Pass
essv6111589	7	SAMN00014314	SNP array	Probe signal intensity	Pass
essv6374297	7	SAMN00014329	SNP array	Probe signal intensity	Pass
essv5511795	7	SAMN00014330	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2663816

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