A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616522



Internal ID6656718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18618177..18618644hg38UCSC Ensembl
Innerchr8:18618178..18618644hg38UCSC Ensembl
Outerchr8:18618177..18618645hg38UCSC Ensembl
chr8:18475687..18476154hg19UCSC Ensembl
Innerchr8:18475688..18476154hg19UCSC Ensembl
Outerchr8:18475687..18476155hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13130032, essv13130066, essv13130063, essv13130048, essv13130054, essv13129944, essv13130020, essv13130028, essv13129990, essv13129933, essv13129957, essv13130052, essv13130058, essv13130080, essv13130094, essv13129967, essv13129994, essv13129998, essv13130027, essv13130041, essv13130002, essv13129929, essv13129969, essv13129984, essv13130042, essv13130026, essv13130014, essv13129979, essv13130044, essv13129974, essv13130013, essv13130055, essv13129987, essv13129940, essv13129981, essv13130057, essv13130099, essv13130088, essv13129938, essv13130078, essv13129948, essv13130019, essv13129996, essv13129995, essv13130085, essv13130060, essv13129931, essv13130087, essv13130059, essv13130075, essv13129991, essv13129928, essv13129975, essv13130010, essv13129963, essv13130035, essv13129956, essv13129927, essv13130050, essv13130024, essv13130091, essv13130006, essv13130082, essv13130095, essv13129989, essv13129999, essv13130086, essv13129982, essv13129937, essv13130043, essv13129949, essv13130079, essv13130021, essv13130072, essv13129954, essv13130051, essv13130090, essv13130001, essv13129950, essv13129983, essv13130097, essv13130045, essv13130089, essv13129988, essv13129935, essv13129968, essv13129992, essv13130015, essv13130034, essv13130077, essv13130036, essv13129973, essv13129932, essv13130038, essv13129978, essv13130062, essv13130007, essv13130084, essv13129993, essv13130073, essv13130096, essv13130069, essv13129960, essv13129926, essv13130017, essv13130023, essv13129986, essv13130009, essv13130040, essv13129972, essv13130098, essv13130018, essv13129997, essv13130065, essv13130030, essv13129936, essv13129943, essv13130083, essv13129965, essv13130016, essv13130067, essv13129971, essv13129946, essv13130012, essv13130056, essv13130064, essv13129952, essv13129924, essv13130047, essv13130068, essv13130076, essv13130074, essv13130070, essv13130092, essv13129980, essv13129934, essv13130000, essv13129930, essv13129951, essv13129945, essv13130003, essv13130071, essv13130081, essv13129955, essv13129941, essv13129985, essv13130039, essv13130061, essv13130011, essv13130004, essv13130093, essv13129966, essv13129925, essv13129964, essv13130008, essv13130025, essv13130022, essv13130049, essv13129976, essv13129962, essv13129977, essv13130029, essv13129970, essv13130031, essv13130005, essv13129942, essv13129939, essv13129947, essv13130037, essv13130053, essv13129958, essv13130033, essv13129959, essv13129961, essv13129953, essv13130046
SamplesHG03684, HG00380, HG03697, HG01761, HG00309, NA20876, HG03698, HG04146, NA21142, HG03705, HG03668, NA21125, NA20890, HG00743, HG03762, NA20506, HG03940, HG03886, HG00145, HG02086, HG02655, HG01173, NA12347, HG03693, HG01105, HG00155, HG01277, HG01970, HG00160, HG00384, HG04014, NA10847, NA20759, HG01085, HG02783, HG01615, HG03663, HG03709, NA20529, HG03642, HG01491, HG02652, HG03973, HG03746, HG00553, HG00190, HG01606, HG01131, HG03680, HG04216, HG01708, NA20805, HG00366, HG03696, HG03928, HG02685, HG04152, HG04209, HG00353, HG00554, NA20761, HG02731, HG04219, HG04098, NA11919, HG04210, NA20533, HG02684, NA21111, HG01092, HG02699, HG03235, HG04075, NA20849, NA21137, HG02700, HG03021, NA12383, HG00240, HG01305, NA20757, NA20908, HG02577, NA21127, HG01709, HG03774, HG02658, HG01785, HG03898, NA11933, NA19774, HG00178, HG03871, HG01589, NA11843, NA12400, NA20520, HG00174, HG01707, HG03864, NA12830, NA21144, HG01986, HG01443, NA21122, HG00159, HG01308, NA20760, NA12348, HG01766, HG04158, NA21107, NA21112, HG03754, HG00260, HG04173, HG03782, HG04239, HG01176, HG03740, HG03873, NA20814, HG01676, HG00116, HG00132, HG02651, HG02494, HG03778, HG03800, NA20797, NA20766, HG01060, HG01702, NA21092, HG03022, HG02479, NA20813, HG04134, HG02690, HG01779, HG02219, NA11832, NA20581, HG01137, NA19669, HG03237, HG03009, HG01632, HG03694, HG02604, HG03644, NA21109, HG00262, HG00362, HG03018, HG00235, HG01593, NA12399, HG00238, HG00142, HG01164, HG03809, HG01746, HG02271, HG01251, NA20872, NA20528, NA12874, NA21105, HG01678, HG03826, NA21091, HG00136, HG03950, HG03006, HG03625
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616522
Frequency
Sample Size2504
Observed Gain0
Observed Loss176
Observed Complex0
Frequencyn/a


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