A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579108



Internal ID18707306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:106275283..106279344hg38UCSC Ensembl
Innerchr10:108035041..108039102hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg384062
hg194062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794782, essv9794783
Samples400199SA, 400934LA
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)esv3579108
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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