esv2673452

Organism: Homo sapiens

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

Variant Calls:28
Validation:Yes
Clinical Assertions: No
Region Size:48,304

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: 832 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):97,712,151-97,760,454

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2673452	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
esv2673452	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	97,047,855	97,096,158

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5403907	deletion	SAMN00001525	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,320
essv5407201	deletion	SAMN00009190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,097
essv5485189	deletion	SAMN00801418	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	808
essv5496118	deletion	SAMN00009105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,619
essv5526384	deletion	SAMN00006386	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,723
essv5560030	deletion	SAMN00009094	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,659
essv5597333	deletion	SAMN00004658	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,548
essv5637720	deletion	SAMN00001224	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	891
essv5682422	deletion	SAMN00009189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,058
essv5762437	deletion	SAMN00006357	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,585
essv5823724	deletion	SAMN00004632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111
essv5867574	deletion	SAMN00009119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,790
essv5874529	deletion	SAMN00001292	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864
essv5886980	deletion	SAMN00007701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028
essv5935668	deletion	SAMN00016972	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,041
essv5937507	deletion	SAMN00006399	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,498
essv5987241	deletion	SAMN00016977	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,190
essv6039537	deletion	SAMN00016971	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,152
essv6143694	deletion	SAMN00006389	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,662
essv6207156	deletion	SAMN00001288	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	897
essv6209339	deletion	SAMN00006398	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6222533	deletion	SAMN00001272	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	863
essv6324357	deletion	SAMN00001236	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	927
essv6436784	deletion	SAMN00006535	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv6505455	deletion	SAMN00006416	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,037
essv6506213	deletion	SAMN00797419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,200
essv6547166	deletion	SAMN00009088	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,671
essv6561354	deletion	SAMN00009168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	752

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5403907	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5407201	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5485189	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5496118	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5526384	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5560030	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5597333	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5637720	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5682422	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5762437	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5823724	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5867574	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5874529	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5886980	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5935668	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5937507	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5987241	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6039537	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6143694	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6207156	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6209339	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6222533	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6324357	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6436784	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6505455	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6506213	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6547166	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv6561354	Remapped	Perfect	NC_000005.10:g.977 12151_97760454delA ATGCATTCA	GRCh38.p12	First Pass	NC_000005.10	Chr5	97,712,151	97,760,454
essv5403907	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5407201	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5485189	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5496118	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5526384	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5560030	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5597333	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5637720	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5682422	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5762437	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5823724	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5867574	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5874529	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5886980	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5935668	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5937507	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv5987241	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6039537	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6143694	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6207156	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6209339	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6222533	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6324357	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6436784	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6505455	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6506213	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6547166	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158
essv6561354	Submitted genomic		NC_000005.9:g.9704 7855_97096158delAA TGCATTCA	GRCh37 (hg19)		NC_000005.9	Chr5	97,047,855	97,096,158

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5637720	7	SAMN00001224	SNP array	Probe signal intensity	Pass
essv6324357	7	SAMN00001236	SNP array	Probe signal intensity	Pass
essv6222533	7	SAMN00001272	SNP array	Probe signal intensity	Pass
essv6207156	7	SAMN00001288	SNP array	Probe signal intensity	Pass
essv5874529	7	SAMN00001292	SNP array	Probe signal intensity	Pass
essv5403907	7	SAMN00001525	SNP array	Probe signal intensity	Pass
essv5823724	7	SAMN00004632	SNP array	Probe signal intensity	Pass
essv5597333	7	SAMN00004658	SNP array	Probe signal intensity	Pass
essv5762437	7	SAMN00006357	SNP array	Probe signal intensity	Pass
essv5526384	7	SAMN00006386	SNP array	Probe signal intensity	Pass
essv6143694	7	SAMN00006389	SNP array	Probe signal intensity	Pass
essv6209339	7	SAMN00006398	SNP array	Probe signal intensity	Pass
essv5937507	7	SAMN00006399	SNP array	Probe signal intensity	Pass
essv6505455	7	SAMN00006416	SNP array	Probe signal intensity	Pass
essv6436784	7	SAMN00006535	SNP array	Probe signal intensity	Pass
essv5886980	7	SAMN00007701	SNP array	Probe signal intensity	Pass
essv6547166	7	SAMN00009088	SNP array	Probe signal intensity	Pass
essv5560030	7	SAMN00009094	SNP array	Probe signal intensity	Pass
essv5496118	7	SAMN00009105	SNP array	Probe signal intensity	Pass
essv5867574	7	SAMN00009119	SNP array	Probe signal intensity	Pass
essv6561354	7	SAMN00009168	SNP array	Probe signal intensity	Pass
essv5682422	7	SAMN00009189	SNP array	Probe signal intensity	Pass
essv5407201	7	SAMN00009190	SNP array	Probe signal intensity	Pass
essv6039537	7	SAMN00016971	SNP array	Probe signal intensity	Pass
essv5935668	7	SAMN00016972	SNP array	Probe signal intensity	Pass
essv5987241	7	SAMN00016977	SNP array	Probe signal intensity	Pass
essv6506213	7	SAMN00797419	SNP array	Probe signal intensity	Pass
essv5485189	7	SAMN00801418	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2673452

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