A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34506



Internal ID12990543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57160644..57438494hg38UCSC Ensembl
Innerchr2:57387779..57665629hg19UCSC Ensembl
Innerchr2:57241283..57519133hg18UCSC Ensembl
Innerchr2:57299430..57577280hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38277851
hg19277851
hg18277851
hg17277851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990275, essv6978714, essv6978715
SamplesNA12155
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34506
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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