A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982918



Internal ID12974544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7871767..7978367hg38UCSC Ensembl
Innerchr12:8024363..8130963hg19UCSC Ensembl
Innerchr12:7915630..8022230hg18UCSC Ensembl
Innerchr12:7915630..8022230hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106601
hg19106601
hg18106601
hg17106601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751116
Supporting Variants
SamplesBEC_527
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982918
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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