A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573669



Internal ID18701867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23766870..23776600hg38UCSC Ensembl
InnerchrX:23784987..23794717hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg389731
hg199731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236e212
Supporting Variantsessv9824296, essv9824302, essv9824304, essv9824305, essv9824298, essv9824303, essv9824300, essv9824297, essv9824301
Samples401330RR, 400066MA, 400341GL, 400846MC, 400571WV, 400354TJ, 400722OM, 400712GC, 400769SL
Known Genes
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)esv3573669
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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