A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978768



Internal ID12632408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7871766..7919412hg38UCSC Ensembl
Innerchr12:8024362..8072008hg19UCSC Ensembl
Innerchr12:7915629..7963275hg18UCSC Ensembl
Innerchr12:7915629..7963275hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3847647
hg1947647
hg1847647
hg1747647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34893
Supporting Variants
SamplesNA12239
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978768
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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