A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582111



Internal ID18363623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:25144276..25157635hg38UCSC Ensembl
Innerchr16:25155597..25168956hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3813360
hg1913360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv809e212
Supporting Variantsessv9810461
Samples400674CA
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)esv3582111
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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