A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2434e212



Internal ID22785361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135613024..135720374hg38UCSC Ensembl
chrX:134746949..134873927hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38107351
hg19126979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577324, esv3577322
Samples400148MS, 400759FV
Known GenesCT45A1, CT45A2, CT45A4
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)dgv2434e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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