A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582194



Internal ID18710392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48861880..48876756hg38UCSC Ensembl
Innerchr16:48895791..48910667hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3814877
hg1914877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv829e212
Supporting Variantsessv9810870, essv9810871, essv9810864, essv9810873, essv9810868, essv9810862, essv9810860, essv9810867, essv9810872, essv9810863, essv9810869, essv9810861, essv9810859
Samples400626FC, 401949MN, 401869BG, 400344DR, 400729HC, 401646MC, 400829MR, 401812HG, 400053LE, 401693RC, 401100SJ, 400164SS, 400923OA
Known Genes
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)esv3582194
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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