A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578702



Internal ID18360214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18396962..18401739hg38UCSC Ensembl
Innerchr10:18685891..18690668hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9792642
Samples400132HN
Known GenesCACNB2
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)esv3578702
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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