A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576923



Internal ID18358435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71124953..71126951hg38UCSC Ensembl
InnerchrX:70344803..70346801hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381999
hg191999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826152, essv9826151
Samples400899NK, 400458LS
Known GenesMED12
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)esv3576923
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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