A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2498e212



Internal ID22785425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141235916..141578155hg38UCSC Ensembl
chrX:140330095..140666276hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38342240
hg19336182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577444, esv3577445, esv3577442
Samples401038LN, 400341GL, 401847RK
Known GenesSPANXA2-OT1, SPANXC
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)dgv2498e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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