A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982972



Internal ID12627914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7927734hg38UCSC Ensembl
Innerchr12:8017478..8080330hg19UCSC Ensembl
Innerchr12:7908745..7971597hg18UCSC Ensembl
Innerchr12:7908745..7971597hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3862853
hg1962853
hg1862853
hg1762853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751112
Supporting Variants
SamplesBEC_53
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982972
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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