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dbVar

Database of genomic structural variation

esv2661372

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:499,244

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: 1884 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):83,872,990-84,372,233

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2661372	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
esv2661372	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5500835	deletion	SAMN00000927	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,263
essv5718925	deletion	SAMN00000422	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,640
essv6191337	deletion	SAMN00014345	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,183
essv6216830	deletion	SAMN00000921	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,039
essv6357013	deletion	SAMN00014314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,733
essv6376356	deletion	SAMN00006541	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,690

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5500835	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv5718925	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv6191337	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv6216830	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv6357013	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv6376356	Remapped	Perfect	NC_000012.12:g.(83 872990_83873147)_( 84372080_84372233) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	83,872,990	83,873,147	84,372,080	84,372,233
essv5500835	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012
essv5718925	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012
essv6191337	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012
essv6216830	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012
essv6357013	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012
essv6376356	Submitted genomic		NC_000012.11:g.(84 266769_84266926)_( 84765859_84766012) del	GRCh37 (hg19)		NC_000012.11	Chr12	84,266,769	84,266,926	84,765,859	84,766,012

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5718925	7	SAMN00000422	SNP array	Probe signal intensity	Pass
essv6216830	7	SAMN00000921	SNP array	Probe signal intensity	Pass
essv5500835	7	SAMN00000927	SNP array	Probe signal intensity	Pass
essv6376356	7	SAMN00006541	SNP array	Probe signal intensity	Pass
essv6357013	7	SAMN00014314	SNP array	Probe signal intensity	Pass
essv6191337	7	SAMN00014345	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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