A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574546



Internal ID18702744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129186633..129189288hg38UCSC Ensembl
InnerchrX:128320610..128323265hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382656
hg192656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2424e212
Supporting Variantsessv9830371, essv9830372, essv9830374, essv9830375, essv9830373
Samples401962BK, 401792KR, 401346FJ, 401587RC, 400072GR
Known Genes
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)esv3574546
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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