A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981089



Internal ID12626111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74724209..75041937hg38UCSC Ensembl
Innerchr2:74951336..75269064hg19UCSC Ensembl
Innerchr2:74804844..75122572hg18UCSC Ensembl
Innerchr2:74862991..75180719hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38317729
hg19317729
hg18317729
hg17317729
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)essv6981089
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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