A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576792



Internal ID18704990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18535216..18537470hg38UCSC Ensembl
InnerchrX:18553336..18555590hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg382255
hg192255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824071, essv9824072
Samples401442WR, 401478RD
Known GenesCDKL5
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)esv3576792
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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