A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578217



Internal ID18359729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159714475..159719242hg38UCSC Ensembl
Innerchr1:159684265..159689032hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg384768
hg194768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9793633, essv9793611, essv9793667, essv9793622, essv9793656, essv9793600, essv9793645
Samples400458LS, 401453OL, 400583HS, 401117NA, 401834CB, 400982BS, 401443JK
Known GenesCRP
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)esv3578217
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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