A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986794



Internal ID12633024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64140453..64294156hg38UCSC Ensembl
Innerchr2:64367587..64521290hg19UCSC Ensembl
Innerchr2:64221091..64374794hg18UCSC Ensembl
Innerchr2:64279238..64432941hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38153704
hg19153704
hg18153704
hg17153704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34955
Supporting Variants
SamplesNA18500
Known GenesLINC00309, PELI1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986794
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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