A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573649



Internal ID18355161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23369151..23373569hg38UCSC Ensembl
InnerchrX:23387268..23391686hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg384419
hg194419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9824202, essv9824201
Samples401358VP, 400236DB
Known GenesPTCHD1
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)esv3573649
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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