A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577453



Internal ID18705651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:142188494..142198172hg38UCSC Ensembl
InnerchrX:141276280..141285958hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg389679
hg199679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9832874, essv9832878, essv9832880, essv9832875, essv9832881, essv9832879, essv9832876, essv9832882, essv9832872, essv9832873
Samples400649PS, 401769CR, 400313DF, 401792KR, 400882DD, 400033KC, 400478WE, 400582WS, 401358VP, 400091BS
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)esv3577453
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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