A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv993e212



Internal ID22783920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63210358..63213051hg38UCSC Ensembl
chr18:60877591..60880284hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382694
hg192694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583102, esv3583103
Samples401636WR, 400982BS
Known GenesBCL2
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)dgv993e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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