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dbVar

Database of genomic structural variation

esv2667482

Organism: Homo sapiens

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

Variant Calls:6
Validation:Yes
Clinical Assertions: No
Region Size:1,208

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: 155 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):20,606,193-20,607,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2667482	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
esv2667482	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	20,932,686	20,933,893

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5433646	deletion	SAMN00800949	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,144
essv5518407	deletion	SAMN00001603	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,445
essv5544381	deletion	SAMN00006499	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,734
essv6137654	deletion	SAMN00000931	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,215
essv6196714	deletion	SAMN00006496	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,230
essv6560816	deletion	SAMN00006532	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,169

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5433646	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv5518407	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv5544381	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv6137654	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv6196714	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv6560816	Remapped	Perfect	NC_000001.11:g.206 06193_20607400delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,606,193	20,607,400
essv5433646	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893
essv5518407	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893
essv5544381	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893
essv6137654	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893
essv6196714	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893
essv6560816	Submitted genomic		NC_000001.10:g.209 32686_20933893delT	GRCh37 (hg19)		NC_000001.10	Chr1	20,932,686	20,933,893

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6137654	7	SAMN00000931	SNP array	Probe signal intensity	Pass
essv5518407	7	SAMN00001603	SNP array	Probe signal intensity	Pass
essv6196714	7	SAMN00006496	SNP array	Probe signal intensity	Pass
essv5544381	7	SAMN00006499	SNP array	Probe signal intensity	Pass
essv6560816	7	SAMN00006532	SNP array	Probe signal intensity	Pass
essv5433646	7	SAMN00800949	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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