A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9830685



Internal ID18280295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135113245..135203184hg38UCSC Ensembl
InnerchrX:134247275..134337115hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3889940
hg1989841
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577267
Supporting Variants
Samples400063BR
Known GenesCXorf48, LINC00633, LOC100287728
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=40
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9830685
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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