A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1280e212



Internal ID22784207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18033553..18037085hg38UCSC Ensembl
chr22:18516319..18519851hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383533
hg193533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568237, esv3568238
Samples400926LJ, 401036WS, 400340CD, 400425SL, 400134WK, 400983PV, 401942MP, 400863SS, 400508RD
Known GenesFLJ41941
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)dgv1280e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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