A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577132



Internal ID18705330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116457638..116460892hg38UCSC Ensembl
InnerchrX:115588804..115592059hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383255
hg193256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2385e212
Supporting Variantsessv9829458, essv9829461, essv9829470, essv9829459, essv9829472, essv9829464, essv9829465, essv9829463, essv9829471, essv9829460, essv9829468, essv9829462, essv9829467
Samples400634MP, 401918CA, 401556KR, 400503HD, 400793BR, 400967PK, 400053LE, 400601WC, 400471YS, 401958MF, 400719TM, 401068SD, 400645KM
Known GenesSLC6A14
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)esv3577132
Frequency
Sample Size873
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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