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dbVar

Database of genomic structural variation

esv2672699

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:8,599

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: 191 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):192,705,901-192,714,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2672699	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
esv2672699	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	192,675,031	192,683,629

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5411653	deletion	SAMN00001184	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,618
essv5651199	deletion	SAMN00001166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv5657034	deletion	SAMN00001665	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,385
essv6424512	deletion	SAMN00001187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6441265	deletion	SAMN00001132	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,614
essv6570012	deletion	SAMN00001117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,366

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5411653	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv5651199	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv5657034	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv6424512	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv6441265	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv6570012	Remapped	Perfect	NC_000001.11:g.192 705901_192714499de lA	GRCh38.p12	First Pass	NC_000001.11	Chr1	192,705,901	192,714,499
essv5411653	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629
essv5651199	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629
essv5657034	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629
essv6424512	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629
essv6441265	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629
essv6570012	Submitted genomic		NC_000001.10:g.192 675031_192683629de lA	GRCh37 (hg19)		NC_000001.10	Chr1	192,675,031	192,683,629

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6570012	7	SAMN00001117	SNP array	Probe signal intensity	Pass
essv6441265	7	SAMN00001132	SNP array	Probe signal intensity	Pass
essv5651199	7	SAMN00001166	SNP array	Probe signal intensity	Pass
essv5411653	7	SAMN00001184	SNP array	Probe signal intensity	Pass
essv6424512	7	SAMN00001187	SNP array	Probe signal intensity	Pass
essv5657034	7	SAMN00001665	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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