A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576795



Internal ID18358307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:20213540..20216224hg38UCSC Ensembl
InnerchrX:20231658..20234342hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg382685
hg192685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824135, essv9824137, essv9824134, essv9824136
Samples401026AM, 401842BJ, 400818BL, 401856GC
Known GenesRPS6KA3
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)esv3576795
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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