A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576767



Internal ID18704965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:11128246..11130026hg38UCSC Ensembl
InnerchrX:11146366..11148146hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381781
hg191781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2219e212
Supporting Variantsessv9823528, essv9823530, essv9823527
Samples400834SS, 401965TG, 400845ML
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)esv3576767
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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