A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561931



Internal ID18763007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58286277..58287182hg38UCSC Ensembl
Outerchr3:58286268..58287400hg38UCSC Ensembl
Innerchr3:58272004..58272909hg19UCSC Ensembl
Outerchr3:58271995..58273127hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760678
Samples
Known GenesABHD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561931
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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