A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580381



Internal ID18708579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95844476..95850976hg38UCSC Ensembl
Innerchr12:96238254..96244754hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801919, essv9801883, essv9801890, essv9801925, essv9801896, essv9801924, essv9801899, essv9801923, essv9801906, essv9801914, essv9801921, essv9801880, essv9801915, essv9801904, essv9801909, essv9801895, essv9801901, essv9801926, essv9801893, essv9801897, essv9801885, essv9801918, essv9801898, essv9801913, essv9801886, essv9801887, essv9801884, essv9801891, essv9801892, essv9801917, essv9801907, essv9801927, essv9801908, essv9801903, essv9801920, essv9801910, essv9801881, essv9801882, essv9801905, essv9801902, essv9801912, essv9801916, essv9801894, essv9801888
Samples400075MR, 400308SP, 400926LJ, 400554WB, 400737GC, 401261HD, 40031BA, 400970VE, 401299ST, 400141CC, 401603HH, 401824MM, 401355CD, 400658BW, 400606HW, 400033KC, 401566DD, 400385LJ, 400836LK, 401532LJ, 400341GL, 400929MM, 401175FA, 401691HA, 400070PC, 402033WD, 401623SN, 401594MP, 401210PB, 401519SA, 400914ER, 402001SR, 400639RP, 400524NJ, 400248JO, 401039PA, 400695PH, 400030WD, 401391PJ, 400501SJ, 401413RG, 400164SS, 400234CA, 400704LC
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)esv3580381
Frequency
Sample Size873
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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