A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv793e212



Internal ID20149249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14956111..15033033hg38UCSC Ensembl
chr16:15049968..15126890hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3876923
hg1976923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582035, esv3582030, esv3582022, esv3582020, esv3582032, esv3582034
Samples400654YW, 400987FB, 400793BR, 401428LD, 400863SS, 401930GD, 400241CP, 401038LN, 400737GC, 400411TG, 400108BJ, 400512LR, 401956DQ, 401698SB, 400674CA
Known GenesPDXDC1
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)dgv793e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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