A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2328n54



Internal ID22770223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7800493..7935631hg38UCSC Ensembl
chr12:7953089..8088227hg19UCSC Ensembl
chr12:7844356..7979494hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38135139
hg19135139
hg18135139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557275, nsv557278, nsv557277, nsv557279
SamplesHGDP01295, HGDP00929
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2328n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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