A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580100



Internal ID18708298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9815311..9823282hg38UCSC Ensembl
Innerchr12:9967907..9975878hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387972
hg197972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800154, essv9800149, essv9800155, essv9800168, essv9800141, essv9800163, essv9800164, essv9800153, essv9800146, essv9800142, essv9800162, essv9800150, essv9800138, essv9800136, essv9800160, essv9800166, essv9800137, essv9800170, essv9800161, essv9800151, essv9800152, essv9800159, essv9800133, essv9800148, essv9800169, essv9800147, essv9800135, essv9800158, essv9800157, essv9800144, essv9800139, essv9800140, essv9800165, essv9800143
Samples401852SK, 401385BB, 400876OG, 401603HH, 401674DD, 401390DG, 400131CM, 400606HW, 401780BB, 400022WA, 400374LB, 400341GL, 400041LJ, 401540NA, 401091HS, 401617KM, 401432SB, 401652HL, 401333MM, 400006DK, 400249BC, 401580CA, 401874DJ, 401514BA, 401359HF, 400444MM, 400624RJ, 400712GC, 401881TJ, 400769SL, 400271SR, 401358VP, 400213DB, 400234CA
Known Genes
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)esv3580100
Frequency
Sample Size873
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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