A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2303e212



Internal ID22785230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63198859..63285717hg38UCSC Ensembl
chrX:62418739..62505594hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3886859
hg1986856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576912, esv3576908, esv3576910
Samples400308SP, 401465TB, 400619MP, 400083TG, 401136LB, 401551MB, 401634CH, 401173AI, 401924ST, 401808PS, 401773AM, 401764JJ, 400302HW, 401437MJ, 401939GD, 400207HN, 401357MH, 401875FG, 400319HT, 401696CG, 401176BD, 401763SG, 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)dgv2303e212
Frequency
Sample Size873
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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