A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1283e212



Internal ID20149739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18166100..19017223hg38UCSC Ensembl
chr22:18648867..19004736hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38851124
hg19355870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575421, esv3575419
Samples401321CE, 400949AM
Known GenesDGCR5, DGCR6, GGT3P, PRODH, USP18
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)dgv1283e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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