A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv848e212



Internal ID20149304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69943519..70163851hg38UCSC Ensembl
chr16:69977422..70197754hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38220333
hg19220333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582282, esv3582286
Samples402054BD, 401681MS, 401510DG
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)dgv848e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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