A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984072



Internal ID12977640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7963425hg38UCSC Ensembl
Innerchr12:8017478..8116021hg19UCSC Ensembl
Innerchr12:7908745..8007288hg18UCSC Ensembl
Innerchr12:7908745..8007288hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898544
hg1998544
hg1898544
hg1798544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751119
Supporting Variants
SamplesBEC_768
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984072
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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