A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583214



Internal ID18364726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6690986..6699718hg38UCSC Ensembl
Innerchr19:6690997..6699729hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388733
hg198733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816540, essv9816543, essv9816535, essv9816538, essv9816530, essv9816537, essv9816539, essv9816541, essv9816531, essv9816536, essv9816542, essv9816534
Samples401640WJ, 401769CR, 400683EC, 402038MR, 400977SC, 401357MH, 400496BL, 401423BA, 400869BK, 400451kh, 400235MP, 400234CA
Known GenesC3
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)esv3583214
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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