Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2664790

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:19,229

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: 268 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):82,182,062-82,201,290

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
esv2664790	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	82,182,062	82,182,130	82,201,205	82,201,290
esv2664790	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	83,941,818	83,941,886	83,960,961	83,961,046

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5786849	deletion	SAMN00009107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,588
essv6291081	deletion	SAMN00004644	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	930

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5786849	Remapped	Perfect	NC_000010.11:g.(82 182062_82182130)_( 82201205_82201290) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	82,182,062	82,182,130	82,201,205	82,201,290
essv6291081	Remapped	Perfect	NC_000010.11:g.(82 182062_82182130)_( 82201205_82201290) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	82,182,062	82,182,130	82,201,205	82,201,290
essv5786849	Submitted genomic		NC_000010.10:g.(83 941818_83941886)_( 83960961_83961046) del	GRCh37 (hg19)		NC_000010.10	Chr10	83,941,818	83,941,886	83,960,961	83,961,046
essv6291081	Submitted genomic		NC_000010.10:g.(83 941818_83941886)_( 83960961_83961046) del	GRCh37 (hg19)		NC_000010.10	Chr10	83,941,818	83,941,886	83,960,961	83,961,046

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6291081	7	SAMN00004644	SNP array	Probe signal intensity	Pass
essv5786849	7	SAMN00009107	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI