A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572649



Internal ID18354161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:26619518..26623101hg38UCSC Ensembl
Innerchr8:26477034..26480617hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383584
hg193584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9787734, essv9787727, essv9787729, essv9787736, essv9787728, essv9787730, essv9787735, essv9787738, essv9787731, essv9787726, essv9787739, essv9787737, essv9787733
Samples401912HD, 400501SJ, 400793BR, 400996MC, 400930MK, 400863SS, 400352CA, 400543CK, 401112LG, 401465TB, 400866RR, 400880TM, 401908YM
Known GenesDPYSL2
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)esv3572649
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