A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8606n54



Internal ID19000782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133413620..133418172hg38UCSC Ensembl
chr3:133132464..133137016hg19UCSC Ensembl
chr3:134615154..134619706hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384553
hg194553
hg184553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591808, nsv591817, nsv591803, nsv591816, nsv591805
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8606n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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