A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv809e212



Internal ID20149265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25140274..25157635hg38UCSC Ensembl
chr16:25151595..25168956hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3817362
hg1917362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582111, esv3582110
Samples400674CA, 400526DR
Known GenesLCMT1, LOC100506655
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)dgv809e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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