A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582216



Internal ID18710414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762464..55788519hg38UCSC Ensembl
Innerchr16:55796376..55822431hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826056
hg1926056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv831e212
Supporting Variantsessv9810984, essv9810994, essv9810989, essv9810990, essv9810993, essv9810986, essv9810982, essv9810983, essv9810978, essv9810979, essv9810987, essv9810985, essv9810992, essv9810981, essv9810980
Samples401146US, 400101EH, 400852WJ, 400486LS, 400606HW, 400688FL, 400109LJ, 400070PC, 400829MR, 400014SL, 401874DJ, 401391PJ, 401054VM, 400849SH, 401395OP
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)esv3582216
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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