A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8607n54



Internal ID20142031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133413620..133418440hg38UCSC Ensembl
chr3:133132464..133137284hg19UCSC Ensembl
chr3:134615154..134619974hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384821
hg194821
hg184821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591815, nsv591804
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8607n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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