A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594791



Internal ID6635067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240042983..240049904hg38UCSC Ensembl
Innerchr2:240042993..240049895hg38UCSC Ensembl
Outerchr2:240042974..240049914hg38UCSC Ensembl
chr2:240982400..240989321hg19UCSC Ensembl
Innerchr2:240982410..240989312hg19UCSC Ensembl
Outerchr2:240982391..240989331hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386922
hg196922
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10890624
SamplesHG03708
Known GenesOR6B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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