A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577455



Internal ID18705653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:143501408..143505235hg38UCSC Ensembl
InnerchrX:142589223..142593050hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383828
hg193828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9832886, essv9832887, essv9832885
Samples400132HN, 401620BA, 401246HH
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)esv3577455
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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