A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767056



Internal ID18305961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54636775..54817638hg38UCSC Ensembl
Innerchr1:55102448..55283311hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38180864
hg19180864
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578471
Supporting Variants
Samples400769SL
Known GenesC1orf177, MROH7, MROH7-TTC4, PARS2, TTC22, TTC4
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
CommentsNumber of probes=201
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9767056
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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