A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572961



Internal ID18701159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118100143..118103672hg38UCSC Ensembl
Innerchr8:119112382..119115911hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg383530
hg193530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2111e212
Supporting Variantsessv9789808, essv9789807, essv9789809, essv9789813, essv9789812, essv9789810
Samples401674DD, 400509CJ, 401064FR, 400134WK, 400093BL, 400501SJ
Known GenesEXT1
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)esv3572961
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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