A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583595



Internal ID18711793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56714566..56721557hg38UCSC Ensembl
Innerchr19:57225934..57232925hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg386992
hg196992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1091e212
Supporting Variantsessv9818351, essv9818350, essv9818358, essv9818354, essv9818359, essv9818361, essv9818365, essv9818372, essv9818349, essv9818370, essv9818367, essv9818371, essv9818368, essv9818356, essv9818369, essv9818348, essv9818357, essv9818364, essv9818363, essv9818360, essv9818362, essv9818352, essv9818353
Samples400364SS, 400917CG, 400572PJ, 401733CG, 400797ST, 400241CP, 401064FR, 400134WK, 400653GP, 400577MK, 401274PA, 401834CB, 400783MJ, 401618HR, 401730MS, 401419SW, 400686BM, 401365DJ, 401152MV, 401284NA, 400266BA, 400300SD, 400269DA
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)esv3583595
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer