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dbVar

Database of genomic structural variation

esv3823772

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:100,486

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 393 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):34,082,515-34,183,004

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3823772	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	34,082,517 (-2, +2)	34,183,002 (-2, +2)
esv3823772	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	34,307,584 (-2, +2)	34,408,069 (-2, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17600125	deletion	HG02232	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17600125	Remapped	Perfect	NC_000002.12:g.(34 082515_34082519)_( 34183000_34183004) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	34,082,517 (-2, +2)	34,183,002 (-2, +2)
essv17600125	Submitted genomic		NC_000002.11:g.(34 307582_34307586)_( 34408067_34408071) del	GRCh37 (hg19)		NC_000002.11	Chr2	34,307,584 (-2, +2)	34,408,069 (-2, +2)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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