A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573862



Internal ID18355374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:37795486..37798933hg38UCSC Ensembl
InnerchrX:37654739..37658186hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg383448
hg193448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825417, essv9825418
Samples400478WE, 401053MF
Known GenesCYBB
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)esv3573862
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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