A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572768



Internal ID18700966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54324759..54342752hg38UCSC Ensembl
Innerchr8:55237319..55255312hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3817994
hg1917994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2081e212
Supporting Variantsessv9788711, essv9788704, essv9788715, essv9788717, essv9788713, essv9788708, essv9788714, essv9788712, essv9788706, essv9788716, essv9788709, essv9788705, essv9788707
Samples401285HN, 401956DQ, 401491BB, 400453LN, 400953MR, 401965TG, 400002HK, 400791GC, 401942MP, 400705KK, 400571WV, 401728WK, 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)esv3572768
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