A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9832827



Internal ID18642370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141246609..141694885hg38UCSC Ensembl
InnerchrX:140340737..140783042hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38448277
hg19442306
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577446
Supporting Variants
Samples400468OB
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
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
CommentsNumber of probes=244
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9832827
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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