A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980064



Internal ID12634527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18532256..18619328hg38UCSC Ensembl
Innerchr10:18821185..18908257hg19UCSC Ensembl
Innerchr10:18861191..18948263hg18UCSC Ensembl
Innerchr10:18861191..18948263hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3887073
hg1987073
hg1887073
hg1787073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34545
Supporting Variants
SamplesNA18948
Known GenesCACNB2, NSUN6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980064
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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