A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1279e212



Internal ID20149735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17913111..17915445hg38UCSC Ensembl
chr22:18395877..18398211hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382335
hg192335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568235, esv3568236
Samples400949AM, 401975VD, 400579HJ, 400929MM, 400829MR, 400542EG, 400267GD, 401215MJ
Known GenesMICAL3
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)dgv1279e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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