A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1319e212



Internal ID20149775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42126516..42145482hg38UCSC Ensembl
chr22:42522518..42541483hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818967
hg1918966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575481, esv3575482, esv3575485
Samples400424LN, 400588BE, 400526DR, 401038LN, 400639RP, 401112LG, 401882CR
Known GenesCYP2D6, CYP2D7P
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)dgv1319e212
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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