A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577043



Internal ID18358555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:111113093..111114299hg38UCSC Ensembl
InnerchrX:110356321..110357527hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828305, essv9828304
Samples400598DA, 400835FD
Known GenesPAK3
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)esv3577043
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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