A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638111



Internal ID6678209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18557061..18602909hg38UCSC Ensembl
chr16:18568383..18614231hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3845849
hg1945849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15397873, essv15397944, essv15397877, essv15397912, essv15397869, essv15397900, essv15397910, essv15397942, essv15397932, essv15397965, essv15397866, essv15397863, essv15397816, essv15397874, essv15397826, essv15397820, essv15397876, essv15397875, essv15397864, essv15397985, essv15397835, essv15397983, essv15397937, essv15397929, essv15397959, essv15397951, essv15397916, essv15397891, essv15397845, essv15397902, essv15397978, essv15397897, essv15397915, essv15397885, essv15397872, essv15397896, essv15397914, essv15397906, essv15397952, essv15397933, essv15397894, essv15397980, essv15397855, essv15397935, essv15397859, essv15397911, essv15397895, essv15397862, essv15397838, essv15397931, essv15397967, essv15397878, essv15397949, essv15397905, essv15397884, essv15397842, essv15397907, essv15397947, essv15397961, essv15397822, essv15397847, essv15397888, essv15397854, essv15397825, essv15397968, essv15397830, essv15397927, essv15397986, essv15397981, essv15397901, essv15397925, essv15397948, essv15397850, essv15397892, essv15397831, essv15397880, essv15397904, essv15397879, essv15397865, essv15397963, essv15397970, essv15397919, essv15397975, essv15397817, essv15397941, essv15397818, essv15397860, essv15397882, essv15397930, essv15397908, essv15397956, essv15397843, essv15397934, essv15397938, essv15397909, essv15397953, essv15397903, essv15397920, essv15397954, essv15397834, essv15397946, essv15397867, essv15397923, essv15397955, essv15397827, essv15397856, essv15397964, essv15397926, essv15397886, essv15397913, essv15397939, essv15397950, essv15397971, essv15397928, essv15397844, essv15397974, essv15397824, essv15397889, essv15397924, essv15397840, essv15397828, essv15397958, essv15397823, essv15397943, essv15397848, essv15397960, essv15397871, essv15397849, essv15397857, essv15397846, essv15397829, essv15397982, essv15397851, essv15397940, essv15397887, essv15397969, essv15397853, essv15397833, essv15397881, essv15397976, essv15397936, essv15397852, essv15397977, essv15397921, essv15397898, essv15397918, essv15397984, essv15397870, essv15397899, essv15397819, essv15397858, essv15397893, essv15397815, essv15397832, essv15397945, essv15397890, essv15397836, essv15397839, essv15397922, essv15397972, essv15397957, essv15397966, essv15397973, essv15397883, essv15397917, essv15397861, essv15397979, essv15397837, essv15397962, essv15397821, essv15397841, essv15397868
SamplesHG02580, NA20903, HG03135, HG01459, HG02657, HG03698, HG04146, HG03900, HG03706, NA19031, HG01846, HG03279, HG03760, HG01675, NA19026, HG01530, HG02970, HG02138, NA21113, NA18561, NA20516, NA19209, NA18501, HG00565, HG02334, HG00155, HG03634, HG02088, HG02513, HG03086, NA10847, HG01389, HG00614, HG02783, NA21133, HG01956, HG03571, HG03234, HG03746, HG02314, NA21098, HG02497, HG03099, NA20897, HG00111, HG03229, HG04200, HG00177, HG04094, HG03268, HG03394, NA18745, NA19467, HG04106, NA19037, HG00479, NA18596, NA18949, HG04076, NA21106, HG02982, HG01107, HG02420, NA19914, NA20585, NA20885, HG02155, HG02360, HG02684, HG00250, HG03910, NA19054, HG03235, NA21088, HG03779, NA21097, HG01028, NA11994, HG01756, HG02554, NA07357, HG02968, HG03559, HG03884, HG00689, HG04198, NA18531, NA18592, HG03100, HG00451, HG02521, HG04042, HG02356, HG04063, NA18593, HG00982, NA18539, HG03895, HG03757, HG00620, HG02814, NA19377, HG02131, HG04017, NA21143, NA19759, HG02127, HG00110, HG04141, HG02768, HG01989, HG03455, HG02922, NA12275, NA20852, HG02594, HG03782, HG03931, NA18749, HG00273, HG03366, HG01630, HG00246, HG02545, HG01702, HG03291, HG03297, HG00729, HG02586, HG01512, NA18940, NA18999, HG03629, NA20799, HG00650, HG01801, HG02154, NA19394, HG03367, NA21087, HG00580, NA18971, NA19755, HG00654, NA18879, NA21086, HG03123, NA19452, HG04018, NA20846, NA19041, HG02464, HG03369, HG03809, HG02409, HG03270, HG03640, HG02721, HG00693, HG00566, HG03012, HG02315, HG02555, HG03976, HG03826, HG01869, HG02493, NA18555, NA18519, HG01980, HG01536, HG03775
Known GenesABCC6P1, NOMO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638111
Frequency
Sample Size2504
Observed Gain172
Observed Loss0
Observed Complex0
Frequencyn/a


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