A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1760e212



Internal ID22784687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33118255..33127399hg38UCSC Ensembl
chr6:33086032..33095176hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg389145
hg199145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570999, esv3571001, esv3571000, esv3570998
Samples400743LS, 402064DC, 400109LJ, 401726LW, 401346FJ
Known GenesHLA-DPB2
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)dgv1760e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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