A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2784n54



Internal ID20136208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91109484..91258928hg38UCSC Ensembl
chr12:91503261..91652705hg19UCSC Ensembl
chr12:90027392..90176836hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38149445
hg19149445
hg18149445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559752, nsv559750, nsv559753
SamplesHGDP00145, HGDP00154, HGDP00155
Known GenesDCN, LUM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2784n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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