A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9827992



Internal ID18324360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:102225791..102342372hg38UCSC Ensembl
InnerchrX:101480784..101597295hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38116582
hg19116512
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574265
Supporting Variants
Samples401321CE
Known GenesNXF2, NXF2B, TCP11X2
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=16
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9827992
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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