A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv850e212



Internal ID20149306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70141960..70163872hg38UCSC Ensembl
chr16:70175863..70197775hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3821913
hg1921913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582285, esv3582287, esv3582284, esv3582289, esv3582291
Samples400920MK, 400204SC, 400553PP, 400643LD, 400509CJ, 400558BL, 401214BJ, 401873BK, 400171BJ, 401952UH, 400705KK, 401075MN, 401795SP, 400859SC, 401763SG, 401453OL
Known GenesPDPR
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)dgv850e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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