A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990232



Internal ID12981895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864877..7927737hg38UCSC Ensembl
Innerchr12:8017473..8080333hg19UCSC Ensembl
Innerchr12:7908740..7971600hg18UCSC Ensembl
Innerchr12:7908740..7971600hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862861
hg1962861
hg1862861
hg1762861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34531
Supporting Variants
SamplesNA19092
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990232
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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