A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577860



Internal ID18706058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53161127..53166752hg38UCSC Ensembl
Innerchr1:53626799..53632424hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385626
hg195626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv35e212
Supporting Variantsessv9836377, essv9836343, essv9836365, essv9836354, essv9836388, essv9836321, essv9836332, essv9836310
Samples401465TB, 400629BM, 400953MR, 402061PI, 400524NJ, 402008MC, 400792RE, 400291VJ
Known Genes
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)esv3577860
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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