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dbVar

Database of genomic structural variation

esv2677532

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:65,749

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: 411 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):46,099,679-46,165,427

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2677532	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
esv2677532	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	46,568,882	46,634,630

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5561073	deletion	SAMN00004675	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,496
essv5724592	deletion	SAMN00006447	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,673
essv6150145	deletion	SAMN00000420	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,470
essv6190373	deletion	SAMN00006501	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,714
essv6242468	deletion	SAMN00000514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,014
essv6432569	deletion	SAMN00000517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,139

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5561073	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv5724592	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv6150145	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv6190373	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv6242468	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv6432569	Remapped	Perfect	NC_000014.9:g.4609 9679_46165427delT	GRCh38.p12	First Pass	NC_000014.9	Chr14	46,099,679	46,165,427
essv5561073	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630
essv5724592	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630
essv6150145	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630
essv6190373	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630
essv6242468	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630
essv6432569	Submitted genomic		NC_000014.8:g.4656 8882_46634630delT	GRCh37 (hg19)		NC_000014.8	Chr14	46,568,882	46,634,630

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6150145	7	SAMN00000420	SNP array	Probe signal intensity	Pass
essv6242468	7	SAMN00000514	SNP array	Probe signal intensity	Pass
essv6432569	7	SAMN00000517	SNP array	Probe signal intensity	Pass
essv5561073	7	SAMN00004675	SNP array	Probe signal intensity	Pass
essv5724592	7	SAMN00006447	SNP array	Probe signal intensity	Pass
essv6190373	7	SAMN00006501	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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