A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1294e212



Internal ID19008502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21956977..22224590hg38UCSC Ensembl
chr22:22311349..22578983hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38267614
hg19267635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575432, esv3575431
Samples400811SK, 401284NA, 401870FB, 401857VG
Known GenesTOP3B
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)dgv1294e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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