A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985233



Internal ID12982998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7989987hg38UCSC Ensembl
Innerchr12:8017478..8142583hg19UCSC Ensembl
Innerchr12:7908745..8033850hg18UCSC Ensembl
Innerchr12:7908745..8033850hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38125106
hg19125106
hg18125106
hg17125106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751123
Supporting Variants
SamplesSPC_129
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985233
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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