A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575079



Internal ID18356591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155599259..155604326hg38UCSC Ensembl
InnerchrX:154828920..154833987hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385068
hg195068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834303
Samples402038MR
Known GenesTMLHE
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575079
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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