A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8794n54



Internal ID20142218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346739..191355917hg38UCSC Ensembl
chr3:191064528..191073706hg19UCSC Ensembl
chr3:192547222..192556400hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg389179
hg199179
hg189179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592827, nsv592840, nsv592835
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8794n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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