A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577783



Internal ID18705981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22292762..22297370hg38UCSC Ensembl
Innerchr1:22619255..22623863hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384609
hg194609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9819643, essv9819532, essv9819977, essv9819199, essv9819310, essv9820199, essv9819421, essv9820088, essv9819754, essv9819088, essv9819865
Samples401487FW, 401460LW, 400325BE, 400934LA, 401355CD, 401792KR, 401303FM, 401495NR, 400843FL, 400454RE, 401735LE
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)esv3577783
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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