A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577445



Internal ID18705643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141246609..141578155hg38UCSC Ensembl
InnerchrX:140340737..140666276hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38331547
hg19325540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2498e212
Supporting Variantsessv9832826
Samples401847RK
Known GenesSPANXA2-OT1
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)esv3577445
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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