A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579751



Internal ID18707949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76261467..76293962hg38UCSC Ensembl
Innerchr11:75972511..76005006hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3832496
hg1932496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv394e212
Supporting Variantsessv9798358, essv9798361, essv9798357, essv9798356, essv9798354, essv9798359, essv9798360
Samples401603HH, 400241CP, 401834CB, 401762SD, 400788PV, 401203MP, 401898DS
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)esv3579751
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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