A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623111



Internal ID7009968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46859751..47001171hg38UCSC Ensembl
chr10:46551272..46693058hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38141421
hg19141787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e214
Supporting Variantsessv13776091, essv13776074, essv13776087, essv13776063, essv13776048, essv13776047, essv13776041, essv13776036, essv13776096, essv13776106, essv13776072, essv13776064, essv13776073, essv13776101, essv13776033, essv13776025, essv13776085, essv13776023, essv13776104, essv13776076, essv13776078, essv13776062, essv13776111, essv13776084, essv13776082, essv13776026, essv13776108, essv13776059, essv13776110, essv13776090, essv13776081, essv13776095, essv13776032, essv13776052, essv13776083, essv13776086, essv13776049, essv13776093, essv13776057, essv13776068, essv13776031, essv13776046, essv13776060, essv13776080, essv13776043, essv13776035, essv13776099, essv13776030, essv13776051, essv13776097, essv13776038, essv13776102, essv13776069, essv13776094, essv13776075, essv13776055, essv13776070, essv13776088, essv13776109, essv13776113, essv13776077, essv13776058, essv13776037, essv13776071, essv13776027, essv13776039, essv13776042, essv13776100, essv13776024, essv13776092, essv13776079, essv13776050, essv13776040, essv13776114, essv13776061, essv13776098, essv13776044, essv13776034, essv13776067, essv13776045, essv13776054, essv13776115, essv13776053, essv13776112, essv13776107, essv13776056, essv13776103, essv13776029, essv13776028, essv13776089, essv13776105, essv13776066, essv13776065
SamplesHG00096, HG04210, HG02628, NA20853, NA20508, NA11995, NA20899, NA11920, NA20531, HG03717, HG00640, HG04094, HG00103, NA19819, HG01971, HG02536, NA12400, HG01704, NA19920, HG01140, HG00337, HG00271, HG04059, NA20814, NA19446, NA19089, NA18519, HG03016, NA19315, HG01702, NA20774, NA20756, NA12287, HG00334, HG00139, NA20759, HG03595, NA19372, NA18617, HG01284, HG03777, HG02471, HG03352, HG01259, HG02427, HG01771, HG01133, NA20587, NA12748, HG01603, NA20854, NA12342, HG04039, HG03644, HG01789, HG02449, HG00101, HG00132, HG03756, NA19776, NA21116, HG03824, NA21086, HG03951, HG04173, NA20881, HG03634, NA19338, HG00146, HG04200, HG03934, NA19834, HG04026, HG03367, NA12775, HG03838, HG02651, HG03702, HG03012, HG02941, NA19783, HG03108, NA20887, HG03600, HG02700, NA20849, NA20786, HG00234, NA07056, HG01775, HG02778, NA12776, HG01618
Known GenesPTPN20A, PTPN20B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623111
Frequency
Sample Size2504
Observed Gain93
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer