A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983246



Internal ID12975057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7982073hg38UCSC Ensembl
Innerchr12:8017478..8134669hg19UCSC Ensembl
Innerchr12:7908745..8025936hg18UCSC Ensembl
Innerchr12:7908745..8025936hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38117192
hg19117192
hg18117192
hg17117192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751122
Supporting Variants
SamplesBEC_559
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983246
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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