A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8809n54



Internal ID20142233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192716269..192914703hg38UCSC Ensembl
chr3:192434058..192632492hg19UCSC Ensembl
chr3:193916752..194115186hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38198435
hg19198435
hg18198435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592906, nsv592905
SamplesHGDP01033
Known GenesFGF12, MB21D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8809n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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