A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573822



Internal ID18702020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:32863147..32872969hg38UCSC Ensembl
InnerchrX:32881264..32891086hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg389823
hg199823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2270e212
Supporting Variantsessv9825297, essv9825300, essv9825298, essv9825295, essv9825296
Samples400574MA, 401321CE, 401931JL, 401824MM, 400295PS
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)esv3573822
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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