A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577812



Internal ID18359324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36412423..36438579hg38UCSC Ensembl
Innerchr1:36878024..36904180hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3826157
hg1926157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28e212
Supporting Variantsessv9834944, essv9834999, essv9835044, essv9834955, essv9835032, essv9835010, essv9834988, essv9834977, essv9834966, essv9835021
Samples400534ME, 401146US, 401117NA, 400897MD, 400199SA, 401165SB, 401801LA, 401419SW, 400520FM, 400106PC
Known GenesOSCP1
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)esv3577812
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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