A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1333e212



Internal ID22784260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49901390..49902867hg38UCSC Ensembl
chr22:50295038..50296515hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568486, esv3568485, esv3568488
Samples400920MK, 401734PG, 400897MD, 401434VN, 400528LR, 400526DR, 400344DR, 400341GL, 401739BJ, 400002HK, 401348RB, 401552BK, 401010HT, 400769SL, 400328LM, 401809FU, 400778SR, 400835FD, 400079AP
Known Genes
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)dgv1333e212
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer