A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577540



Internal ID18705738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154142994..154171861hg38UCSC Ensembl
InnerchrX:153408468..153437343hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3828868
hg1928876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2536e212
Supporting Variantsessv9834075, essv9834074
Samples400298ME, 400383HL
Known GenesOPN1LW
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)esv3577540
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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