A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9827832



Internal ID18286423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:100648980..100650213hg38UCSC Ensembl
InnerchrX:99903977..99905210hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574252
Supporting Variants
Samples400218WK
Known GenesSRPX2
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=22
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9827832
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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