A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8605n54



Internal ID19000781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133413620..133416677hg38UCSC Ensembl
chr3:133132464..133135521hg19UCSC Ensembl
chr3:134615154..134618211hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383058
hg193058
hg183058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591807, nsv591802
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8605n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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