A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8337n54



Internal ID22776232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57430974..57503864hg38UCSC Ensembl
chr3:57416701..57489591hg19UCSC Ensembl
chr3:57391741..57464631hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3872891
hg1972891
hg1872891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590366, nsv590365
Samples
Known GenesDNAH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8337n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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