A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv851e212



Internal ID22783778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70141960..70233644hg38UCSC Ensembl
chr16:70175863..70267547hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3891685
hg1991685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582288, esv3582290
Samples401997HB, 400205SP
Known GenesCLEC18C, LOC100506060, PDPR
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)dgv851e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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