A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1372e212



Internal ID20149828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46751582..46818593hg38UCSC Ensembl
chr3:46793072..46860083hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3867012
hg1967012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568729, esv3568730
Samples400272AE, 400800MW
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1372e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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