A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3582253

Internal ID18363765
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57930650..57946614hg38UCSC Ensembl
Innerchr16:57964554..57980518hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9811142, essv9811139, essv9811144, essv9811141, essv9811148, essv9811138, essv9811153, essv9811133, essv9811151, essv9811154, essv9811132, essv9811135, essv9811149, essv9811150, essv9811136, essv9811140, essv9811155, essv9811137, essv9811146, essv9811152, essv9811157, essv9811143, essv9811147
Samples400683EC, 402060PD, 400300SD, 400107MJ, 401532LJ, 400971MK, 401551MB, 401922MW, 401552BK, 400353ML, 402012RR, 401419SW, 401780BB, 400410CD, 400737GC, 400728PB, 401265CB, 401536BD, 401778CB, 400836LK, 40050SB, 401914PR, 400340CD
Known GenesCNGB1
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
Pubmed ID25503493
Accession Number(s)esv3582253
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0

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