A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572955



Internal ID18701153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117857150..117863521hg38UCSC Ensembl
Innerchr8:118869389..118875760hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg386372
hg196372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2110e212
Supporting Variantsessv9789714, essv9789713, essv9789715, essv9789710, essv9789717, essv9789712, essv9789716, essv9789709, essv9789708
Samples400594VJ, 400655WB, 401832MC, 401125LM, 400249BC, 400624RJ, 400722OM, 400704LC, 401180GR
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)esv3572955
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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