A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582831



Internal ID18711029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57517630..57523677hg38UCSC Ensembl
Innerchr17:55594991..55601038hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386048
hg196048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv955e212
Supporting Variantsessv9814827, essv9814829, essv9814835, essv9814834, essv9814848, essv9814832, essv9814847, essv9814831, essv9814851, essv9814849, essv9814840, essv9814830, essv9814836, essv9814843, essv9814846, essv9814839, essv9814838, essv9814828, essv9814850, essv9814841, essv9814845, essv9814842, essv9814837, essv9814852
Samples400739SS, 400268SY, 40031BA, 400622SJ, 401742KB, 400325BE, 400620MT, 400438DB, 400134WK, 400579HJ, 401801LA, 401234MB, 401979TB, 400515ZG, 400285FA, 401804FG, 401348RB, 400422PN, 401696CG, 401259LS, 400677HD, 401372RR, 400525MR, 400243CK
Known GenesMSI2
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)esv3582831
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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