A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577830



Internal ID18359342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44707787..44712838hg38UCSC Ensembl
Innerchr1:45173459..45178510hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385052
hg195052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835744, essv9835799, essv9835822, essv9835755, essv9835810, essv9835766, essv9835788, essv9835733, essv9835777
Samples401636WR, 400101EH, 400294HD, 400620MT, 400486LS, 401879HJ, 400759FV, 400234CA, 400982BS
Known GenesC1orf228
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)esv3577830
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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