A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577266



Internal ID18705464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135163217..135198048hg38UCSC Ensembl
InnerchrX:134297142..134331979hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3834832
hg1934838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2433e212
Supporting Variantsessv9830691, essv9830687, essv9830689, essv9830686, essv9830690
Samples400876OG, 402067KS, 401820SD, 401792KR, 400368SD
Known GenesCXorf48
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)esv3577266
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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