A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577777



Internal ID18705975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21516950..21522399hg38UCSC Ensembl
Innerchr1:21843443..21848892hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24e212
Supporting Variantsessv9809088, essv9808532, essv9808866, essv9809199, essv9808643, essv9808754, essv9808977
Samples401721CP, 401234MB, 400886MP, 400454RE, 400235MP, 401543DC, 400890IT
Known GenesALPL
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)esv3577777
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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