A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576793



Internal ID18358305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18780019..19298577hg38UCSC Ensembl
InnerchrX:18798137..19316695hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38518559
hg19518559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824074
Samples401428LD
Known GenesGPR64, PHKA2, PHKA2-AS1, PPEF1
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)esv3576793
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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