A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579099



Internal ID18360611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:104630374..104647741hg38UCSC Ensembl
Innerchr10:106390132..106407499hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg3817368
hg1917368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794754, essv9794749, essv9794750, essv9794759, essv9794758, essv9794757, essv9794752, essv9794753, essv9794751
Samples401746WW, 401013GJ, 401251WN, 401870FB, 400240HJ, 401210PB, 400863SS, 401912HD, 401154BR
Known GenesSORCS3
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)esv3579099
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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