A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577042



Internal ID18358554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:109722073..109723161hg38UCSC Ensembl
InnerchrX:108965302..108966390hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828298, essv9828296, essv9828295, essv9828297
Samples400238BB, 401026AM, 400368SD, 400732MA
Known GenesACSL4
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)esv3577042
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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