A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583458



Internal ID18364970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50274982..50279047hg38UCSC Ensembl
Innerchr19:50778239..50782304hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384066
hg194066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9817717, essv9817716, essv9817711, essv9817709, essv9817720, essv9817707, essv9817719, essv9817713, essv9817714, essv9817715, essv9817718, essv9817712, essv9817708
Samples401401BA, 400927BD, 401612HB, 400136DM, 402038MR, 401894PD, 400053LE, 400152MR, 400033KC, 400082SD, 400444MM, 400413FJ, 401698SB
Known GenesMYH14
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)esv3583458
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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