A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573915



Internal ID18355427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:43972307..43973656hg38UCSC Ensembl
InnerchrX:43831553..43832902hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825565
Samples400132HN
Known GenesNDP
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)esv3573915
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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