A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1492e212



Internal ID22784419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68501375..68620109hg38UCSC Ensembl
chr4:69367093..69485827hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38118735
hg19118735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569488, esv3569489, esv3569486, esv3569480, esv3569479, esv3569490
Samples401368WR, 400934LA, 400953MR, 402062KR, 401353BC, 400043HC, 402054BD, 401410BJ, 401284NA
Known GenesUGT2B17
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)dgv1492e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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