A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1311e212



Internal ID20149767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26641404..26660144hg38UCSC Ensembl
chr22:27037368..27056108hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3818741
hg1918741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568336, esv3568335
Samples400247CL, 400574MA, 400427SD, 400977SC, 401795SP, 40050SB, 400732MA, 401681MS, 401177SL, 400782IE
Known GenesMIAT
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)dgv1311e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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