A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2408e212



Internal ID22785335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120956725..120988433hg38UCSC Ensembl
chrX:120090579..120122287hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3831709
hg1931709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577214, esv3577198, esv3577201, esv3577215, esv3577196
Samples400432VA, 401261HD, 401742KB, 400083TG, 400191MP, 400425SL, 400493KH, 400241CP, 401990PR, 401173AI, 401869BG, 400127MD, 401506LK, 401268PS, 401611CD, 400849SH, 401105WS, 400255CD
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A8, CT47A9
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)dgv2408e212
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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