A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568636



Internal ID18350148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20054618..20060071hg38UCSC Ensembl
Innerchr3:20096110..20101563hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385454
hg195454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837626, essv9837627, essv9837629, essv9837625, essv9837628
Samples400641WJ, 401149VA, 400987FB, 400650RM, 400442FE
Known GenesKAT2B
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)esv3568636
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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