A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576906



Internal ID18358418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:62662617..62932706hg38UCSC Ensembl
InnerchrX:61882087..62152176hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38270090
hg19270090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2302e212
Supporting Variantsessv9826017
Samples400378HL
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)esv3576906
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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