A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576963



Internal ID18358475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:86035648..86038431hg38UCSC Ensembl
InnerchrX:85290652..85293435hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg382784
hg192784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2326e212
Supporting Variantsessv9826871, essv9826873, essv9826870, essv9826872
Samples400450FG, 400218WK, 400729HC, 401093VL
Known GenesCHM
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)esv3576963
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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