A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978242



Internal ID12981653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7810617..7919417hg38UCSC Ensembl
Innerchr12:7963213..8072013hg19UCSC Ensembl
Innerchr12:7854480..7963280hg18UCSC Ensembl
Innerchr12:7854480..7963280hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38108801
hg19108801
hg18108801
hg17108801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34279
Supporting Variants
SamplesNA18991
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978242
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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