A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574161



Internal ID18702359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:89600227..89615592hg38UCSC Ensembl
InnerchrX:88855226..88870591hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3815366
hg1915366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9827490, essv9827489
Samples400970VE, 401927SK
Known Genes
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)esv3574161
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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