A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9824074



Internal ID18328204
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576793
Supporting Variants
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
CommentsNumber of probes=517
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9824074
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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