A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578445



Internal ID18706643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219949665..219959397hg38UCSC Ensembl
Innerchr1:220123007..220132739hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389733
hg199733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9806311, essv9806266, essv9806355, essv9806333, essv9806377, essv9806322, essv9806344, essv9806366, essv9806277, essv9806288, essv9806299
Samples401235IA, 401845MJ, 401006ES, 401764JJ, 401017SC, 401016IT, 400069CN, 401152MV, 400130HA, 400084DM, 400532MH
Known GenesRNU5F-1
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)esv3578445
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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