A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981088



Internal ID12626112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74722905..74991204hg38UCSC Ensembl
Innerchr2:74950032..75218331hg19UCSC Ensembl
Innerchr2:74803540..75071839hg18UCSC Ensembl
Innerchr2:74861687..75129986hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38268300
hg19268300
hg18268300
hg17268300
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981088
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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