A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8334n54



Internal ID22776229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53043356..53045872hg38UCSC Ensembl
chr3:53077372..53079888hg19UCSC Ensembl
chr3:53052412..53054928hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382517
hg192517
hg182517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590342, nsv590341
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8334n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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