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dbVar

Database of genomic structural variation

esv2661239

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:14,344

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: 179 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):76,122,143-76,136,486

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
esv2661239	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	76,122,143	76,122,300	76,136,333	76,136,486
esv2661239	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	76,171,294	76,171,451	76,185,484	76,185,637

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5740381	deletion	SAMN00009107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,588
essv5773296	deletion	SAMN00016967	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,067

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5740381	Remapped	Perfect	NC_000003.12:g.(76 122143_76122300)_( 76136333_76136486) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,122,143	76,122,300	76,136,333	76,136,486
essv5773296	Remapped	Perfect	NC_000003.12:g.(76 122143_76122300)_( 76136333_76136486) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,122,143	76,122,300	76,136,333	76,136,486
essv5740381	Submitted genomic		NC_000003.11:g.(76 171294_76171451)_( 76185484_76185637) del	GRCh37 (hg19)		NC_000003.11	Chr3	76,171,294	76,171,451	76,185,484	76,185,637
essv5773296	Submitted genomic		NC_000003.11:g.(76 171294_76171451)_( 76185484_76185637) del	GRCh37 (hg19)		NC_000003.11	Chr3	76,171,294	76,171,451	76,185,484	76,185,637

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5740381	7	SAMN00009107	SNP array	Probe signal intensity	Pass
essv5773296	7	SAMN00016967	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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