A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580530



Internal ID18362042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128795042..128814491hg38UCSC Ensembl
Innerchr12:129279587..129299036hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3819450
hg1919450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528e212
Supporting Variantsessv9802840, essv9802842, essv9802853, essv9802852, essv9802851, essv9802846, essv9802841, essv9802847, essv9802838, essv9802848, essv9802839, essv9802849, essv9802843, essv9802845, essv9802850
Samples400920MK, 400294HD, 401434VN, 400650RM, 401831TW, 401013GJ, 401939GD, 400791GC, 401514BA, 400837HN, 400722OM, 401054VM, 400328LM, 401358VP, 400012CJ
Known GenesSLC15A4
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)esv3580530
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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