A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575482



Internal ID18703680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42126951..42144107hg38UCSC Ensembl
Innerchr22:42522953..42540108hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3817157
hg1917156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1319e212
Supporting Variantsessv9822225, essv9822226, essv9822228, essv9822224
Samples400588BE, 401038LN, 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)esv3575482
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer