A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574092



Internal ID18702290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77609221..77612207hg38UCSC Ensembl
InnerchrX:76864692..76867678hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382987
hg192987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826491, essv9826500, essv9826497, essv9826494, essv9826496, essv9826492, essv9826498, essv9826495
Samples400545EW, 401006ES, 401550SP, 401050GS, 400050RL, 400888MS, 401259LS, 400971MK
Known GenesATRX
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)esv3574092
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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