A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571720



Internal ID18353232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505498..75541688hg38UCSC Ensembl
Innerchr16:75539396..75575586hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3836191
hg1936191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv856e212
Supporting Variantsessv9811363
Samples401110GJ
Known GenesCHST5, TMEM231
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)esv3571720
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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