A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582706



Internal ID18364218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45859743..45875040hg38UCSC Ensembl
Innerchr17:43937109..43952406hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3815298
hg1915298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9814106, essv9814110, essv9814105, essv9814113, essv9814104, essv9814116, essv9814114, essv9814109, essv9814121, essv9814108, essv9814112, essv9814115, essv9814118, essv9814107, essv9814123, essv9814119, essv9814117, essv9814120
Samples401706BJ, 400625FT, 401949MN, 401093VL, 400453LN, 401582GG, 400134WK, 400148MS, 400073HT, 400783MJ, 401853WR, 401017SC, 401334DH, 400677HD, 401265CB, 401105WS, 400266BA, 401576WC
Known GenesMAPT-AS1
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)esv3582706
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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