A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582253



Internal ID18363765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57930650..57946614hg38UCSC Ensembl
Innerchr16:57964554..57980518hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3815965
hg1915965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9811147, essv9811148, essv9811135, essv9811141, essv9811136, essv9811144, essv9811146, essv9811139, essv9811140, essv9811153, essv9811155, essv9811149, essv9811142, essv9811150, essv9811151, essv9811133, essv9811132, essv9811137, essv9811152, essv9811138, essv9811154, essv9811157, essv9811143
Samples400737GC, 400683EC, 400340CD, 401536BD, 401551MB, 401780BB, 402012RR, 400353ML, 400836LK, 401532LJ, 400107MJ, 401419SW, 401778CB, 40050SB, 401922MW, 401914PR, 400728PB, 401552BK, 402060PD, 400410CD, 400971MK, 401265CB, 400300SD
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3582253
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer