A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34545



Internal ID12643896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18532256..18619365hg38UCSC Ensembl
Innerchr10:18821185..18908294hg19UCSC Ensembl
Innerchr10:18861191..18948300hg18UCSC Ensembl
Innerchr10:18861191..18948300hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3887110
hg1987110
hg1887110
hg1787110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980064, essv6980065, essv6980066
SamplesNA18948
Known GenesCACNB2, NSUN6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34545
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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