A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630582



Internal ID6670718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101882100..101883343hg38UCSC Ensembl
Innerchr12:101882211..101883253hg38UCSC Ensembl
Outerchr12:101881874..101883569hg38UCSC Ensembl
chr12:102275878..102277121hg19UCSC Ensembl
Innerchr12:102275989..102277031hg19UCSC Ensembl
Outerchr12:102275652..102277347hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14590987, essv14591129, essv14591130, essv14591034, essv14591011, essv14591101, essv14590977, essv14590855, essv14590939, essv14591074, essv14590917, essv14590817, essv14590886, essv14591122, essv14590849, essv14590964, essv14590843, essv14590937, essv14590830, essv14590895, essv14590875, essv14591017, essv14591004, essv14591084, essv14591095, essv14591133, essv14590931, essv14591013, essv14591089, essv14590921, essv14590823, essv14590922, essv14590883, essv14591035, essv14590925, essv14591119, essv14591161, essv14591137, essv14591053, essv14590971, essv14591162, essv14590820, essv14590958, essv14591155, essv14591068, essv14590834, essv14590876, essv14591026, essv14590861, essv14590847, essv14590998, essv14591157, essv14591091, essv14590996, essv14590915, essv14590924, essv14590870, essv14590976, essv14590934, essv14590832, essv14591047, essv14590854, essv14591018, essv14590995, essv14591067, essv14591109, essv14590898, essv14590896, essv14590901, essv14591048, essv14590949, essv14590954, essv14590955, essv14591027, essv14591118, essv14591093, essv14591128, essv14590877, essv14590992, essv14591040, essv14590933, essv14591057, essv14590972, essv14591030, essv14590918, essv14591073, essv14590839, essv14590909, essv14590842, essv14590863, essv14591114, essv14590888, essv14591145, essv14591150, essv14590988, essv14591071, essv14591096, essv14591146, essv14590975, essv14591144, essv14591149, essv14590920, essv14590812, essv14590879, essv14590978, essv14590968, essv14591016, essv14591127, essv14591141, essv14590878, essv14591159, essv14590942, essv14591115, essv14590838, essv14590857, essv14590914, essv14590938, essv14591052, essv14591024, essv14590953, essv14590965, essv14590865, essv14591097, essv14590833, essv14590824, essv14590845, essv14590973, essv14590818, essv14590862, essv14591054, essv14590821, essv14590835, essv14590871, essv14590997, essv14591019, essv14591092, essv14590929, essv14590970, essv14590860, essv14590983, essv14590853, essv14590874, essv14590880, essv14591153, essv14590951, essv14590974, essv14591142, essv14590903, essv14591056, essv14590864, essv14590941, essv14591140, essv14590910, essv14590963, essv14591028, essv14591090, essv14591154, essv14590872, essv14590891, essv14591044, essv14591156, essv14591160, essv14590980, essv14591098, essv14590985, essv14591075, essv14590923, essv14590960, essv14591110, essv14591126, essv14590991, essv14591072, essv14591069, essv14590946, essv14590926, essv14591060, essv14590841, essv14590866, essv14591037, essv14591135, essv14590840, essv14591014, essv14591066, essv14590846, essv14590935, essv14590907, essv14591065, essv14590930, essv14590982, essv14591152, essv14591009, essv14591136, essv14591082, essv14591131, essv14591058, essv14591132, essv14591077, essv14591124, essv14591112, essv14591117, essv14591083, essv14590932, essv14591103, essv14591094, essv14591106, essv14590906, essv14590897, essv14590944, essv14590908, essv14591015, essv14591051, essv14590858, essv14591116, essv14590822, essv14591064, essv14591148, essv14590851, essv14590994, essv14590927, essv14591023, essv14590868, essv14591049, essv14590919, essv14590967, essv14591010, essv14590815, essv14590999, essv14591005, essv14591125, essv14590831, essv14590993, essv14591063, essv14591085, essv14591111, essv14590966, essv14591006, essv14591020, essv14591059, essv14590913, essv14590837, essv14590856, essv14591134, essv14591055, essv14590947, essv14591003, essv14590867, essv14591008, essv14590900, essv14590887, essv14590892, essv14590912, essv14591099, essv14591046, essv14590986, essv14590979, essv14590852, essv14590869, essv14591022, essv14591105, essv14591163, essv14591087, essv14590819, essv14591158, essv14590957, essv14591036, essv14590940, essv14590894, essv14591086, essv14590825, essv14591121, essv14591032, essv14591100, essv14591061, essv14590828, essv14590956, essv14590961, essv14591001, essv14591108, essv14591021, essv14590943, essv14590936, essv14590850, essv14591070, essv14591012, essv14590990, essv14590889, essv14591139, essv14591088, essv14590928, essv14590899, essv14591062, essv14591043, essv14590826, essv14590844, essv14591080, essv14591107, essv14591102, essv14591031, essv14590948, essv14590904, essv14590816, essv14591029, essv14590814, essv14591120, essv14590829, essv14590848, essv14591007, essv14591081, essv14590882, essv14590873, essv14590989, essv14591039, essv14591143, essv14591076, essv14590813, essv14591104, essv14590902, essv14590859, essv14590969, essv14591138, essv14590905, essv14590952, essv14590884, essv14591050, essv14591147, essv14591041, essv14591078, essv14591002, essv14590945, essv14591113, essv14591079, essv14590962, essv14591045, essv14591042, essv14591123, essv14590881, essv14590984, essv14591038, essv14590827, essv14590959, essv14590981, essv14591151, essv14590836, essv14590911, essv14590950, essv14590885, essv14590893, essv14591025, essv14591033, essv14590916, essv14590890, essv14591000
SamplesNA18642, HG02140, HG00613, HG02122, NA19012, HG02725, NA20903, HG03858, HG00157, HG00537, HG02166, NA18595, HG03668, NA18951, HG00619, HG02736, HG01852, NA18630, HG00956, HG03631, HG03940, HG02164, HG03744, HG00705, NA18966, HG00500, HG03856, NA20510, NA20851, HG02727, HG00464, HG02060, HG00457, HG04096, NA18545, NA18603, HG02139, HG01031, HG04056, HG00614, HG02783, NA20902, HG04060, HG00475, NA18947, HG04186, HG00542, HG03616, HG02375, NA18546, NA21135, HG04118, HG00683, NA18994, NA18963, HG01844, HG03951, HG03967, HG04176, HG04214, HG04094, HG02685, HG00699, HG03812, NA18745, HG01608, NA18625, NA18943, NA18596, HG03897, NA19077, HG02402, NA19062, HG00556, HG04098, HG02775, NA20885, HG03910, NA19054, HG04188, NA19059, NA19076, HG00593, HG02696, HG02397, HG03882, HG02121, HG01865, HG03953, HG04164, NA18622, HG02050, NA18623, HG00759, HG01595, HG03867, HG04153, NA18641, NA18991, HG03681, HG00689, HG03898, HG04198, NA18531, HG02385, HG03862, HG04194, NA18956, HG03007, HG00631, NA18959, HG00533, NA18609, NA21116, NA21119, HG00419, NA18973, HG02521, HG03887, HG00634, HG00254, HG02380, NA20892, HG00403, NA21144, HG04227, HG01596, HG01599, HG03971, HG00584, HG03848, NA20847, NA18539, HG00867, HG02076, HG03780, HG03895, HG01797, NA20769, HG02058, HG02392, HG03869, HG04059, HG03757, NA21122, HG03902, HG01810, HG02131, NA19080, HG01600, NA18640, NA18747, HG02185, HG03998, HG02382, HG03792, NA21128, NA20767, HG00766, HG00629, HG03660, HG03914, HG03673, HG03743, HG03919, HG04070, NA21112, HG02073, HG04173, NA21141, HG03944, HG02017, HG02069, HG03873, HG02787, HG00478, NA18961, HG02780, HG03778, NA18613, NA19001, HG00524, NA21093, HG00534, HG04162, HG00458, HG00525, HG00599, HG01805, NA18562, NA21092, HG03823, HG02072, HG02395, HG02085, HG00674, HG01880, HG02374, NA18606, NA18543, HG01162, HG00590, HG00595, HG03237, NA21126, HG02128, HG03888, HG04033, NA18983, HG00443, HG03589, NA18599, NA20911, HG04022, HG03629, HG02182, HG04047, HG02070, HG02154, NA18538, NA18740, HG02351, HG03866, HG01872, HG02134, HG03694, HG03990, NA20850, HG00663, HG03913, NA18646, NA21109, HG02075, HG02181, HG03702, HG01862, NA18544, NA18971, HG00448, HG00608, HG02141, HG03905, HG03999, NA21089, HG01802, HG02187, NA18548, NA11830, NA18946, NA19064, HG03890, NA18944, NA21117, HG00656, NA20886, NA20869, NA18571, HG00422, NA19006, HG00708, HG02409, NA18610, HG00623, NA18984, HG03814, HG03016, HG02399, HG03838, HG00275, NA18532, NA18549, NA18574, NA21105, HG00598, HG00684, HG04171, HG02188, HG03720, HG00671, HG01807, HG01857, HG03826, HG00345, HG03907, NA18555, HG04182, HG03991, NA19065, HG03824, NA20899, HG03950, NA19058, NA18629, HG04107, HG03689, HG03625, HG01864, HG03684, HG02057, NA18964, HG03832, HG04146, HG00536, HG00607, NA20874, HG01846, HG03785, NA21125, HG02165, HG02398, HG02116, HG04156, NA18561, NA18952, HG02023, NA20906, HG01858, HG01944, HG00879, HG03634, NA19060, NA19090, NA18570, NA19072, NA18639, NA20881, HG03643, NA18948, HG01847, HG03611, NA18648, HG03709, HG04026, NA18969, NA18573, HG03234, HG03680, HG04216, HG01029, HG03019, HG00557, NA20895, NA21129, NA18965, HG02789, HG01848, HG03947, NA20877, HG03687, HG04038, NA21106, HG01311
Known GenesDRAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630582
Frequency
Sample Size2504
Observed Gain0
Observed Loss352
Observed Complex0
Frequencyn/a


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