A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34279



Internal ID12990318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7810616..7982073hg38UCSC Ensembl
Innerchr12:7963212..8134669hg19UCSC Ensembl
Innerchr12:7854479..8025936hg18UCSC Ensembl
Innerchr12:7854479..8025936hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38171458
hg19171458
hg18171458
hg17171458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv58e55
Supporting Variantsessv6990214, essv6978242, essv6986573, essv6986574
SamplesNA18991
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34279
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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