A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981090



Internal ID12626110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74724218..75041918hg38UCSC Ensembl
Innerchr2:74951345..75269045hg19UCSC Ensembl
Innerchr2:74804853..75122553hg18UCSC Ensembl
Innerchr2:74863000..75180700hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38317701
hg19317701
hg18317701
hg17317701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751900
Supporting Variants
SamplesBEC_351
Known GenesHK2, POLE4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981090
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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