A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575074



Internal ID18356586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155534047..155546277hg38UCSC Ensembl
InnerchrX:154763708..154775938hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3812231
hg1912231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834285
Samples402042BJ
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)esv3575074
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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