A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579147



Internal ID18707345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:118694155..118701375hg38UCSC Ensembl
Innerchr10:120453667..120460887hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg387221
hg197221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794991, essv9794990, essv9794994, essv9794993, essv9794992
Samples400221VM, 401297KC, 401842BJ, 400458LS, 400323AA
Known GenesCACUL1
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)esv3579147
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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