A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979435



Internal ID12980188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7964473hg38UCSC Ensembl
Innerchr12:8017478..8117069hg19UCSC Ensembl
Innerchr12:7908745..8008336hg18UCSC Ensembl
Innerchr12:7908745..8008336hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3899592
hg1999592
hg1899592
hg1799592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751120
Supporting Variants
SamplesNA18555
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979435
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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