A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8863n54



Internal ID20142287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197308114..197617305hg38UCSC Ensembl
chr3:197034985..197344176hg19UCSC Ensembl
chr3:198519382..198828573hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38309192
hg19309192
hg18309192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593153, nsv593155
SamplesHGDP00966
Known GenesBDH1, LOC220729
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8863n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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