A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8308n54



Internal ID20141732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46811189..46894037hg38UCSC Ensembl
chr3:46852679..46935527hg19UCSC Ensembl
chr3:46827683..46910531hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3882849
hg1982849
hg1882849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590206, nsv590205
Samples
Known GenesMYL3, PRSS42, PTH1R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8308n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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