A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576823



Internal ID18358335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31435252..31440704hg38UCSC Ensembl
InnerchrX:31453369..31458821hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg385453
hg195453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2250e212
Supporting Variantsessv9824814
Samples401519SA
Known GenesDMD
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)esv3576823
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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