A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989900



Internal ID12977570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7964473hg38UCSC Ensembl
Innerchr12:8017478..8117069hg19UCSC Ensembl
Innerchr12:7908745..8008336hg18UCSC Ensembl
Innerchr12:7908745..8008336hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3899592
hg1999592
hg1899592
hg1799592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751114
Supporting Variants
SamplesBEC_755
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989900
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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