A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv60e55



Internal ID22761010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7864882..7982073hg38UCSC Ensembl
chr12:8017478..8134669hg19UCSC Ensembl
chr12:7908745..8025936hg18UCSC Ensembl
chr12:7908745..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 StatusM
Merged Variants
Supporting Variantsesv2751122, esv2751121, esv34402
SamplesBEC_558, BEC_106, BEC_559
Known GenesSLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv60e55
Frequency
Sample Size771
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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