A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582221



Internal ID18710419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55770855..55782780hg38UCSC Ensembl
Innerchr16:55804767..55816692hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3811926
hg1911926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv838e212
Supporting Variantsessv9811067, essv9811068, essv9811066
Samples400368SD, 400356MC, 401475MK
Known GenesCES1P1
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)esv3582221
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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