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 Variantsessv14590909, essv14590957, essv14590856, essv14590855, essv14591036, essv14591126, essv14590924, essv14590984, essv14591092, essv14590921, essv14590825, essv14591076, essv14590877, essv14591148, essv14591000, essv14590935, essv14591002, essv14590992, essv14591124, essv14590991, essv14590902, essv14591108, essv14591095, essv14590900, essv14590959, essv14591025, essv14590859, essv14591078, essv14591057, essv14590850, essv14591049, essv14591107, essv14591097, essv14591018, essv14590815, essv14591134, essv14591123, essv14591071, essv14590862, essv14591073, essv14590918, essv14590854, essv14590871, essv14591023, essv14590931, essv14591039, essv14591026, essv14590866, essv14591014, essv14590947, essv14590891, essv14590852, essv14591099, essv14591110, essv14590949, essv14590928, essv14590905, essv14590863, essv14590875, essv14590813, essv14591017, essv14590915, essv14590865, essv14591149, essv14590954, essv14591045, essv14590874, essv14590987, essv14590965, essv14590853, essv14591132, essv14591011, essv14591089, essv14591105, essv14590929, essv14591052, essv14590911, essv14590933, essv14590980, essv14591100, essv14590932, essv14590961, essv14590977, essv14590993, essv14590896, essv14591143, essv14591065, essv14590914, essv14591150, essv14590925, essv14591050, essv14590880, essv14590936, essv14590998, essv14590983, essv14590917, essv14590904, essv14590982, essv14591147, essv14591137, essv14590969, essv14590963, essv14590870, essv14590978, essv14591085, essv14590848, essv14591006, essv14590881, essv14590876, essv14590827, essv14591102, essv14590967, essv14590937, essv14590910, essv14591159, essv14590845, essv14591119, essv14591081, essv14590953, essv14591162, essv14590942, essv14591072, essv14590995, essv14590940, essv14591016, essv14590946, essv14590930, essv14590913, essv14590826, essv14591093, essv14590912, essv14591028, essv14590955, essv14590816, essv14590830, essv14590979, essv14591141, essv14591051, essv14591160, essv14591058, essv14591035, essv14590883, essv14590846, essv14590966, essv14591090, essv14590832, essv14591069, essv14591084, essv14591061, essv14591067, essv14590888, essv14591054, essv14590898, essv14591022, essv14590841, essv14591031, essv14591019, essv14591074, essv14590851, essv14591007, essv14590926, essv14591010, essv14590960, essv14591158, essv14590837, essv14590985, essv14591046, essv14590842, essv14590867, essv14591098, essv14591096, essv14591030, essv14591114, essv14591060, essv14590986, essv14590903, essv14590916, essv14591154, essv14591128, essv14591053, essv14591101, essv14591131, essv14590836, essv14590828, essv14590899, essv14590908, essv14591113, essv14591003, essv14590989, essv14590951, essv14591153, essv14591077, essv14591056, essv14590994, essv14591151, essv14590823, essv14591021, essv14591042, essv14591029, essv14591038, essv14591001, essv14591142, essv14590812, essv14591024, essv14590974, essv14590886, essv14591118, essv14590906, essv14590819, essv14590820, essv14591155, essv14590945, essv14590872, essv14591152, essv14590833, essv14590861, essv14590990, essv14590879, essv14590972, essv14591130, essv14590868, essv14590873, essv14591008, essv14591013, essv14590869, essv14590860, essv14591140, essv14591086, essv14590814, essv14590939, essv14590843, essv14590964, essv14590818, essv14590996, essv14590824, essv14591033, essv14591004, essv14590844, essv14591066, essv14591082, essv14591068, essv14591063, essv14590922, essv14590840, essv14591121, essv14590892, essv14591112, essv14591083, essv14590847, essv14590822, essv14591156, essv14590923, essv14590970, essv14590956, essv14591047, essv14591070, essv14591117, essv14591079, essv14591080, essv14591145, essv14591115, essv14591055, essv14590997, essv14591120, essv14591015, essv14590971, essv14590895, essv14590858, essv14591075, essv14590944, essv14591088, essv14591129, essv14590849, essv14591127, essv14591161, essv14591122, essv14590934, essv14591012, essv14590968, essv14590894, essv14590943, essv14591059, essv14591020, essv14590973, essv14590962, essv14590938, essv14591111, essv14591044, essv14591034, essv14590941, essv14591005, essv14591009, essv14590834, essv14591032, essv14590821, essv14591139, essv14590884, essv14590831, essv14590927, essv14591104, essv14590829, essv14590948, essv14590920, essv14590882, essv14590835, essv14591138, essv14590887, essv14591091, essv14591040, essv14591064, essv14591157, essv14591094, essv14591062, essv14590897, essv14591135, essv14591109, essv14590890, essv14590893, essv14590878, essv14591144, essv14591133, essv14590976, essv14591163, essv14590901, essv14590838, essv14591087, essv14590839, essv14591048, essv14590958, essv14590950, essv14591103, essv14590817, essv14591146, essv14590975, essv14590999, essv14590981, essv14591106, essv14590907, essv14590988, essv14590885, essv14591041, essv14590952, essv14590889, essv14591136, essv14591043, essv14590919, essv14590864, essv14591125, essv14591027, essv14590857, essv14591116, essv14591037
SamplesNA18745, HG00542, NA19058, HG04096, HG02072, HG00608, HG02385, NA18947, HG00671, HG01031, HG04060, HG02375, HG03687, HG00766, HG02122, HG02727, HG00457, NA18639, HG03616, HG02017, HG01802, HG02050, HG02382, NA18959, HG02154, NA21128, HG03999, HG04156, NA18969, HG04059, HG00663, NA21135, HG04038, HG03016, HG02185, HG02069, HG02140, HG00674, HG00599, NA20911, HG02521, HG03673, HG03913, HG02085, NA19062, NA18574, HG04182, HG03234, NA18571, HG04070, HG00537, HG02131, HG04033, HG03887, HG03910, HG00867, NA21109, HG02736, HG02187, HG03888, HG00534, HG03947, HG00705, NA18966, HG03814, HG04047, NA21129, HG01844, HG02780, HG02409, NA21105, NA18539, HG02164, HG02134, NA18951, NA20892, NA18747, HG01847, HG00443, NA18538, HG02070, NA19006, HG04146, HG02075, HG03907, HG00557, HG01857, HG02380, NA21119, HG03990, NA20885, HG02057, HG02775, HG00556, HG00275, HG02165, NA18948, HG01029, NA19064, NA18548, HG03823, HG03967, NA18573, NA20903, HG03951, HG02787, NA21112, HG00684, HG04173, HG02121, HG03631, HG02141, NA18532, HG03643, HG03953, NA19059, HG03971, HG02783, NA18555, HG03914, NA18963, NA18531, HG04176, HG03898, NA18570, HG04118, HG03694, NA19012, HG03743, HG03720, HG01858, NA20851, NA21117, HG03848, HG04216, HG00254, HG04227, NA21144, HG04026, NA19072, HG04186, NA19090, HG03702, HG03869, NA20902, NA18943, NA18610, HG02188, NA20906, HG00614, HG02128, HG00478, NA20847, HG01846, HG02116, NA20510, NA21093, NA18609, HG04098, HG01600, HG02182, NA19080, HG04171, NA18983, HG00595, HG01807, NA18623, HG02351, HG04153, HG03867, NA19065, NA18740, HG01805, HG00593, HG04198, HG00403, HG03812, NA20874, NA11830, HG00536, NA21089, NA20877, HG00524, HG03237, NA20899, HG04194, NA18561, NA18599, NA21092, HG03589, NA18641, NA18603, HG04094, HG00699, NA18545, HG03668, HG02058, NA18596, HG01944, NA18625, HG04164, NA18606, HG03895, HG03792, HG00879, HG03944, HG02023, HG03950, HG03680, NA19076, NA18944, HG04022, HG03757, NA20850, NA18595, HG00689, HG00448, HG03873, HG00458, NA20769, HG01599, HG00634, HG03905, HG02374, NA18642, NA19054, HG03629, HG01848, NA18964, HG00590, HG04214, HG03826, HG03897, HG02395, HG00683, HG00422, NA20869, HG03744, HG02073, NA18640, HG03832, NA18973, HG00419, NA21122, NA18648, HG00464, HG03862, NA21106, HG03709, HG02402, NA18544, HG03902, HG03780, HG02166, HG03785, NA18613, HG00629, HG01797, HG03007, HG01595, NA19077, HG01864, NA18956, HG02397, HG01162, HG04107, NA18991, HG02076, HG00475, HG04162, NA20895, HG01810, HG00584, HG00533, HG00598, HG00500, HG01880, NA20767, HG03919, HG01852, NA18630, HG00619, HG00708, NA21116, HG02789, HG01311, HG03824, HG00956, HG03660, NA21141, HG03858, NA20881, NA18946, NA19001, HG03625, HG00613, HG00525, HG00157, HG03634, HG02725, HG01865, HG03991, HG02399, HG01596, HG03940, NA18646, NA18546, HG03866, HG03778, HG04188, NA18961, NA18952, NA18543, HG02696, HG03838, HG03689, HG00623, HG00631, HG00607, NA18629, HG02685, HG02139, NA21126, HG03681, HG03019, HG01862, HG02181, NA21125, HG02398, NA18971, NA19060, HG00656, NA18994, HG02392, HG03998, HG03684, HG01872, NA20886, NA18984, HG03882, HG03611, HG03856, HG04056, HG00345, HG03890, HG00759, NA18549, NA18622, NA18562, HG02060, NA18965, HG01608
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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