A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580522



Internal ID18362034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127912871..127920081hg38UCSC Ensembl
Innerchr12:128397416..128404626hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv525e212
Supporting Variantsessv9802618, essv9802621, essv9802614, essv9802613, essv9802612, essv9802620, essv9802610, essv9802617, essv9802619, essv9802616, essv9802609, essv9802615
Samples400987FB, 400534ME, 400506GN, 400553PP, 400077EB, 400241CP, 400773GS, 400203NA, 400579HJ, 400043HC, 400722OM, 402073LQ
Known GenesLINC00507
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)esv3580522
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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