A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35142



Internal ID12644492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75600919..75686775hg38UCSC Ensembl
Innerchr2:75828045..75913901hg19UCSC Ensembl
Innerchr2:75681553..75767409hg18UCSC Ensembl
Innerchr2:75739700..75825556hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3885857
hg1985857
hg1885857
hg1785857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152e55
Supporting Variantsessv6980117, essv6987007, essv6990445
SamplesNA18956
Known GenesGCFC2, MRPL19
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)esv35142
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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