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dbVar

Database of genomic structural variation

esv3868511

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:15,800

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

Remapped(Score: Perfect):93,907,819-93,923,750

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3868511	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	93,907,885 (-66, +66)	93,923,684 (-66, +66)
esv3868511	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	94,301,661 (-66, +66)	94,317,460 (-66, +66)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22936045	deletion	HG01066	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,614

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22936045	Remapped	Perfect	NC_000012.12:g.(93 907819_93907951)_( 93923618_93923750) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	93,907,885 (-66, +66)	93,923,684 (-66, +66)
essv22936045	Submitted genomic		NC_000012.11:g.(94 301595_94301727)_( 94317394_94317526) del	GRCh37 (hg19)		NC_000012.11	Chr12	94,301,661 (-66, +66)	94,317,460 (-66, +66)

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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