A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576910



Internal ID18705108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:63212272..63285717hg38UCSC Ensembl
InnerchrX:62432151..62505594hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3873446
hg1973444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2303e212
Supporting Variantsessv9826043, essv9826041, essv9826036, essv9826031, essv9826046, essv9826034, essv9826038, essv9826050, essv9826035, essv9826030, essv9826040, essv9826037, essv9826042, essv9826045, essv9826048, essv9826049, essv9826047, essv9826032, essv9826039
Samples400308SP, 401465TB, 400619MP, 400083TG, 401136LB, 401634CH, 401924ST, 401808PS, 401773AM, 401764JJ, 400302HW, 401437MJ, 401939GD, 400207HN, 401357MH, 401875FG, 401176BD, 400661AD, 401497PR
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)esv3576910
Frequency
Sample Size873
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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