A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581753



Internal ID18709951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:66724884..66740039hg38UCSC Ensembl
Innerchr15:67017222..67032377hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3815156
hg1915156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv746e212
Supporting Variantsessv9808859, essv9808849, essv9808851, essv9808853, essv9808847, essv9808841, essv9808860, essv9808848, essv9808861, essv9808845, essv9808844, essv9808850, essv9808858, essv9808852, essv9808856, essv9808846, essv9808842, essv9808855, essv9808857
Samples400325BE, 401906DT, 400356MC, 400817MB, 401550SP, 400983PV, 401331LJ, 402033WD, 401278DM, 400076LC, 400123WN, 400686BM, 401514BA, 401334DH, 400053LE, 401012TP, 400128MJ, 4000046CJ, 400238BB
Known GenesSMAD6
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)esv3581753
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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