A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8792n54



Internal ID22776687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191341533..191355439hg38UCSC Ensembl
chr3:191059322..191073228hg19UCSC Ensembl
chr3:192542016..192555922hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3813907
hg1913907
hg1813907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592821, nsv592820, nsv592823, nsv592819
SamplesHGDP00191, HGDP00140, HGDP00898, HGDP00469, HGDP01147
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8792n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer