A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577041



Internal ID18358553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:109722073..109727008hg38UCSC Ensembl
InnerchrX:108965302..108970237hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg384936
hg194936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828300, essv9828301, essv9828302
Samples400478WE, 400728PB, 400970VE
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)esv3577041
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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