A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576790



Internal ID18358302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18221874..18242206hg38UCSC Ensembl
InnerchrX:18239994..18260326hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3820333
hg1920333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231e212
Supporting Variantsessv9824068, essv9824069
Samples400728PB, 400458LS
Known GenesSCML2
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)esv3576790
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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