A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667412



Internal ID9586831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18938807..18941613hg38UCSC Ensembl
Outerchr19:18938136..18941983hg38UCSC Ensembl
Innerchr19:19049616..19052422hg19UCSC Ensembl
Outerchr19:19048945..19052792hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6141846, essv5963618, essv5739929, essv6036582, essv6010977, essv5615778, essv6004304, essv5541111, essv6413233, essv6594277, essv6517310, essv6418971, essv5592290, essv6230988, essv6124489, essv6206496, essv5699798, essv5993491, essv5480656, essv6304284, essv6237412, essv6187732, essv5708048, essv5680022, essv5695515, essv5600892, essv5772946, essv6344180, essv6352927, essv5640165, essv5536985, essv5855038, essv6484521, essv6533204, essv5969551, essv5770270, essv6415066, essv6443014, essv6056132, essv6317141, essv6556736, essv5780940, essv5591727, essv5805700, essv5709335, essv6248614, essv6522502, essv6370443, essv5694520, essv6343154, essv5464730, essv5515946, essv6148196, essv5960576, essv6570810, essv5728456, essv6156035, essv6533879, essv5622853, essv5837600, essv6245471, essv5736114, essv6467352, essv6540392, essv6080907, essv5719728, essv5821701, essv6376471, essv6490444, essv5978556, essv5612311, essv6225580, essv6148596, essv6547362, essv5746811, essv5947971, essv5910499, essv6343883, essv5959442, essv6541049, essv6183194, essv6334152, essv6141074, essv5999834, essv5590384, essv6443963, essv6109448
SamplesHG01060, HG01173, HG00231, HG00249, HG00242, HG01052, HG01079, HG01188, HG01066, HG00244, HG00737, HG01051, HG00261, HG00138, HG01070, HG00122, HG01167, HG01168, HG00736, HG01083, HG00247, HG00243, HG00158, HG00139, HG01069, HG01080, HG01067, HG00120, HG00148, HG00106, HG01170, HG00236, HG00262, HG01072, HG01176, HG00160, HG00118, HG01198, HG00159, HG01048, HG00264, HG00260, HG00137, HG00133, HG01183, HG00154, HG01187, HG00732, HG01095, HG00263, HG01047, HG01102, HG01073, HG00250, HG01197, HG01182, HG01101, HG00157, HG00140, HG01334, HG00246, HG01107, HG01204, HG01075, HG00258, HG00124, HG00155, HG00254, HG00119, HG01190, HG00734, HG00136, HG00638, HG01174, HG00237, HG01108, HG00256, HG00125, HG00259, HG01055, HG00123, HG00131, HG00252, HG01082, HG00554, HG01191, HG01061
Known GenesHOMER3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667412
Frequency
Sample Size1151
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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