A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578266



Internal ID18706464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171282370..171288979hg38UCSC Ensembl
Innerchr1:171251509..171258118hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg386610
hg196610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e212
Supporting Variantsessv9795966, essv9796000, essv9795944, essv9795978, essv9795900, essv9796011, essv9796022, essv9795911, essv9795922, essv9795955, essv9795933, essv9795989
Samples400920MK, 401221LD, 401518VK, 401442WR, 401732HW, 401376RD, 400758KP, 401762SD, 401981GF, 400837HN, 401372RR, 400152MR
Known GenesFMO1
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)esv3578266
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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