A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9830451



Internal ID18321239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:130401493..130404644hg38UCSC Ensembl
InnerchrX:129535467..129538618hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg383152
hg193152
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574567
Supporting Variants
Samples401238QR
Known GenesRBMX2
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9830451
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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