A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577744



Internal ID18705942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:14730061..14734694hg38UCSC Ensembl
Innerchr1:15056557..15061190hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e212
Supporting Variantsessv9798088, essv9798754, essv9798977, essv9798421, essv9798310, essv9798532, essv9798643, essv9798866, essv9798199
Samples401235IA, 401415CB, 400051MR, 401184MM, 400333CC, 401981GF, 400524NJ, 401203MP, 400782IE
Known GenesKAZN
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)esv3577744
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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