A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599059



Internal ID6639324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189645621..189653114hg38UCSC Ensembl
Innerchr3:189645763..189653064hg38UCSC Ensembl
Outerchr3:189645354..189653381hg38UCSC Ensembl
chr3:189363410..189370903hg19UCSC Ensembl
Innerchr3:189363552..189370853hg19UCSC Ensembl
Outerchr3:189363143..189371170hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387494
hg197494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11266813, essv11266712, essv11266967, essv11266870, essv11266756, essv11266851, essv11267242, essv11266668, essv11267208, essv11266871, essv11266521, essv11266983, essv11266527, essv11266992, essv11266940, essv11267065, essv11266529, essv11266548, essv11266916, essv11267251, essv11266888, essv11267034, essv11266957, essv11267082, essv11267017, essv11266742, essv11266564, essv11266523, essv11266758, essv11267086, essv11266573, essv11266675, essv11267246, essv11266899, essv11266576, essv11266623, essv11267194, essv11267272, essv11266840, essv11267227, essv11266563, essv11266536, essv11266928, essv11266988, essv11267032, essv11267210, essv11266624, essv11266817, essv11266761, essv11267107, essv11266901, essv11267073, essv11266511, essv11266664, essv11267078, essv11266615, essv11267104, essv11266549, essv11266561, essv11267030, essv11266669, essv11267121, essv11267144, essv11266714, essv11266841, essv11266868, essv11266969, essv11266963, essv11267174, essv11267061, essv11267051, essv11266874, essv11266586, essv11267056, essv11267059, essv11267258, essv11267173, essv11266998, essv11266889, essv11266657, essv11266575, essv11267018, essv11267003, essv11266658, essv11266695, essv11266718, essv11266747, essv11266948, essv11266708, essv11267266, essv11267127, essv11266731, essv11267043, essv11266635, essv11266886, essv11267118, essv11267156, essv11267195, essv11266583, essv11267148, essv11266554, essv11266700, essv11266996, essv11266939, essv11266562, essv11267011, essv11266872, essv11266491, essv11266881, essv11266737, essv11266594, essv11266566, essv11266644, essv11266997, essv11266820, essv11267162, essv11267060, essv11266828, essv11266555, essv11266894, essv11266830, essv11267027, essv11266807, essv11267045, essv11267239, essv11266753, essv11266981, essv11267126, essv11266982, essv11266900, essv11267098, essv11266560, essv11266544, essv11267234, essv11266629, essv11266705, essv11267199, essv11267150, essv11267278, essv11267184, essv11267001, essv11266797, essv11266849, essv11266720, essv11266887, essv11267111, essv11266938, essv11267110, essv11267102, essv11266979, essv11266932, essv11266802, essv11266810, essv11266736, essv11266925, essv11267037, essv11266559, essv11266968, essv11267249, essv11267141, essv11266989, essv11267147, essv11266991, essv11267244, essv11266876, essv11267039, essv11267228, essv11266776, essv11266803, essv11266733, essv11266588, essv11266882, essv11266770, essv11267261, essv11267205, essv11267179, essv11267204, essv11267109, essv11266978, essv11266493, essv11267097, essv11267022, essv11266958, essv11266904, essv11266558, essv11267178, essv11267091, essv11267190, essv11266952, essv11266985, essv11266757, essv11267211, essv11266487, essv11266589, essv11266518, essv11266696, essv11266553, essv11266973, essv11266654, essv11266671, essv11267029, essv11267229, essv11266694, essv11266935, essv11267236, essv11266829, essv11266792, essv11266791, essv11266775, essv11266755, essv11267031, essv11266600, essv11266713, essv11266809, essv11266930, essv11266740, essv11267092, essv11266846, essv11267023, essv11267016, essv11267151, essv11266507, essv11266729, essv11266863, essv11266574, essv11267000, essv11266890, essv11266691, essv11267055, essv11266625, essv11266777, essv11266781, essv11267222, essv11266640, essv11267153, essv11266662, essv11267267, essv11266550, essv11267221, essv11267067, essv11266515, essv11266656, essv11266598, essv11266734, essv11266595, essv11267233, essv11266815, essv11267166, essv11266814, essv11266796, essv11267129, essv11266719, essv11266962, essv11266503, essv11266865, essv11266524, essv11266746, essv11266627, essv11266954, essv11266725, essv11267201, essv11267165, essv11266827, essv11266971, essv11266754, essv11266759, essv11266926, essv11266618, essv11266591, essv11267225, essv11267133, essv11266929, essv11266784, essv11267137, essv11266937, essv11266748, essv11266506, essv11266771, essv11266688, essv11266947, essv11266721, essv11267182, essv11267191, essv11266836, essv11266990, essv11266915, essv11266649, essv11266961, essv11266778, essv11266684, essv11267108, essv11266490, essv11266602, essv11267010, essv11266903, essv11267250, essv11266633, essv11267089, essv11267180, essv11267154, essv11266862, essv11266611, essv11266488, essv11266789, essv11266530, essv11267253, essv11266632, essv11266711, essv11266919, essv11266571, essv11267181, essv11266685, essv11266880, essv11266655, essv11266908, essv11267237, essv11266687, essv11267021, essv11266838, essv11266631, essv11267135, essv11267247, essv11266995, essv11266492, essv11266727, essv11267277, essv11267209, essv11266974, essv11266959, essv11266581, essv11266898, essv11266673, essv11267042, essv11266885, essv11266834, essv11266619, essv11267068, essv11266994, essv11267280, essv11267257, essv11266628, essv11266774, essv11266765, essv11267176, essv11266843, essv11266584, essv11266519, essv11267212, essv11267106, essv11266866, essv11267015, essv11266663, essv11266642, essv11267192, essv11266766, essv11266683, essv11267207, essv11267274, essv11266601, essv11266567, essv11266614, essv11266605, essv11267281, essv11266500, essv11266760, essv11266489, essv11266850, essv11266927, essv11266706, essv11267084, essv11267169, essv11267047, essv11266821, essv11267008, essv11267140, essv11267163, essv11266902, essv11266525, essv11267161, essv11266942, essv11266875, essv11266732, essv11266485, essv11266783, essv11267245, essv11267219, essv11267094, essv11266698, essv11266577, essv11266879, essv11266779, essv11266621, essv11267113, essv11266724, essv11266578, essv11266801, essv11266808, essv11266569, essv11266794, essv11267223, essv11267248, essv11266944, essv11267254, essv11267004, essv11267203, essv11266772, essv11266859, essv11267013, essv11266526, essv11266541, essv11266693, essv11267136, essv11266769, essv11266806, essv11266768, essv11267130, essv11267087, essv11266923, essv11266545, essv11266608, essv11266824, essv11267002, essv11266652, essv11266659, essv11267183, essv11266680, essv11266795, essv11266528, essv11267066, essv11266552, essv11266665, essv11267124, essv11266933, essv11267006, essv11266701, essv11267217, essv11267196, essv11267134, essv11266883, essv11267053, essv11266743, essv11266812, essv11267079, essv11266984, essv11266535, essv11267145, essv11266970, essv11267152, essv11266960, essv11267276, essv11267186, essv11267054, essv11266785, essv11267216, essv11266704, essv11266645, essv11266832, essv11266949, essv11267185, essv11266609, essv11266848, essv11266568, essv11267189, essv11267139, essv11267132, essv11266906, essv11266653, essv11266911, essv11267044, essv11267064, essv11267057, essv11266986, essv11266672, essv11266941, essv11266540, essv11267197, essv11267224, essv11267157, essv11266599, essv11266909, essv11266786, essv11266703, essv11267119, essv11267125, essv11267270, essv11266542, essv11267214, essv11266739, essv11266580, essv11267215, essv11266966, essv11267279, essv11266582, essv11267149, essv11266590, essv11266592, essv11266516, essv11266650, essv11266715, essv11266892, essv11266517, essv11267188, essv11266738, essv11266610, essv11266637, essv11266497, essv11266716, essv11267093, essv11267256, essv11266504, essv11266547, essv11266877, essv11266956, essv11267085, essv11266977, essv11266975, essv11267260, essv11267100, essv11267120, essv11266869, essv11266722, essv11267105, essv11266800, essv11267175, essv11266910, essv11267062, essv11266505, essv11266735, essv11266666, essv11267264, essv11266587, essv11267142, essv11266520, essv11266537, essv11267114, essv11267036, essv11266993, essv11266913, essv11266699, essv11267128, essv11266647, essv11267095, essv11267014, essv11266825, essv11266539, essv11266943, essv11266934, essv11267198, essv11267220, essv11266677, essv11266749, essv11266596, essv11266837, essv11267177, essv11267020, essv11266884, essv11266858, essv11267090, essv11267080, essv11266501, essv11266953, essv11266999, essv11266597, essv11266867, essv11266745, essv11266826, essv11266804, essv11266744, essv11266763, essv11266639, essv11266987, essv11266818, essv11267168, essv11266534, essv11266799, essv11267040, essv11267083, essv11267275, essv11267193, essv11266864, essv11266976, essv11267171, essv11267172, essv11267143, essv11267025, essv11267231, essv11267187, essv11266972, essv11266955, essv11266922, essv11266678, essv11267035, essv11266617, essv11266570, essv11266764, essv11266514, essv11267005, essv11266630, essv11267076, essv11267077, essv11267074, essv11267052, essv11266726, essv11266752, essv11267063, essv11267075, essv11266839, essv11266676, essv11266741, essv11267241, essv11267206, essv11266873, essv11266819, essv11266634, essv11267033, essv11266842, essv11266546, essv11267200, essv11266835, essv11266697, essv11266964, essv11267226, essv11266702, essv11266951, essv11267072, essv11267046, essv11266681, essv11266717, essv11266920, essv11267265, essv11267259, essv11266853, essv11266660, essv11266950, essv11266847, essv11266620, essv11266643, essv11266980, essv11267170, essv11266626, essv11267041, essv11266790, essv11266707, essv11266878, essv11266857, essv11266616, essv11267096, essv11267026, essv11266897, essv11266513, essv11266607, essv11266579, essv11267019, essv11266522, essv11266482, essv11266689, essv11266670, essv11266945, essv11266914, essv11266893, essv11266674, essv11267202, essv11266905, essv11266679, essv11266692, essv11266532, essv11267213, essv11267116, essv11267159, essv11267009, essv11266816, essv11266495, essv11266831, essv11266498, essv11267117, essv11267123, essv11266861, essv11266907, essv11266690, essv11266667, essv11267131, essv11266604, essv11266638, essv11266773, essv11267262, essv11267243, essv11266686, essv11266636, essv11267167, essv11267058, essv11267050, essv11266780, essv11267088, essv11266891, essv11266793, essv11266924, essv11266565, essv11266788, essv11267252, essv11267155, essv11266723, essv11266512, essv11267230, essv11267158, essv11266896, essv11266499, essv11267238, essv11266917, essv11267160, essv11266822, essv11266486, essv11266494, essv11267240, essv11266811, essv11266556, essv11266661, essv11266531, essv11266508, essv11266852, essv11267273, essv11267271, essv11267115, essv11267101, essv11266936, essv11266483, essv11266502, essv11267007, essv11266921, essv11266533, essv11266496, essv11266682, essv11267218, essv11266912, essv11266798, essv11267024, essv11266710, essv11266855, essv11267081, essv11266805, essv11266750, essv11266557, essv11266648, essv11267048, essv11266895, essv11266845, essv11266728, essv11267122, essv11266613, essv11266854, essv11267038, essv11266651, essv11266572, essv11266751, essv11266603, essv11266484, essv11266510, essv11266931, essv11266606, essv11266730, essv11266823, essv11266612, essv11266860, essv11267268, essv11267263, essv11266509, essv11266585, essv11267099, essv11267235, essv11266543, essv11267232, essv11266641, essv11267138, essv11267164, essv11266646, essv11266782, essv11266946, essv11267112, essv11266965, essv11266709, essv11266856, essv11266622, essv11267028, essv11267049, essv11266767, essv11266844, essv11266787, essv11267070, essv11266762, essv11267146, essv11266538, essv11266918, essv11267269, essv11267069, essv11267071, essv11266593, essv11267012, essv11267255, essv11266833, essv11266551, essv11267103
SamplesHG01850, HG00650, NA19058, NA20529, HG00608, HG00142, NA18947, HG01885, HG04060, NA21099, HG03247, NA11931, NA18979, HG03449, HG02419, NA18999, HG02836, HG02798, NA18528, HG04076, HG03521, HG03455, HG02017, HG02050, NA18504, HG02382, NA18530, HG02154, HG02356, NA21128, NA19920, NA18633, NA20359, HG03837, HG00717, HG03603, HG03645, HG00356, NA19379, NA19315, HG02690, HG02069, NA18995, HG02156, HG01676, NA21130, HG04206, HG02840, NA20911, HG02521, NA18558, NA18547, HG03913, NA18618, NA12762, HG01365, HG00537, NA19079, NA18949, HG01859, HG04033, HG03910, HG00632, NA18868, HG02634, HG02389, NA19238, HG01849, HG02178, NA19036, HG00406, NA19239, NA18985, HG03073, NA19025, HG03585, HG01851, HG01164, NA20892, HG01847, NA18538, HG03132, HG01501, NA19070, NA19056, HG01200, HG01122, HG02070, HG04146, HG01857, NA19175, HG02380, NA20521, HG00657, NA19184, HG01879, NA19043, HG02084, HG02144, HG03775, HG02728, HG03159, HG01796, HG03781, HG02878, NA18907, NA18537, HG03301, NA20901, NA19084, HG00690, HG00404, NA12829, NA21112, HG04173, HG02121, HG02141, HG03024, NA19059, HG04063, HG02601, NA19452, HG03752, NA19318, NA18531, HG04176, HG02219, NA19395, NA19625, HG04093, HG03694, HG02675, HG04200, HG03934, HG01858, NA20851, HG00611, HG02667, HG01597, NA21144, HG04026, NA19712, NA18564, HG02088, NA18628, HG02355, HG00580, NA20870, HG01874, NA12873, HG02391, NA19010, HG01174, HG01866, HG03869, NA19428, HG01798, NA19083, NA18943, HG02580, NA12763, HG00662, NA18615, HG02188, NA19117, HG02379, HG02373, HG00478, HG03157, HG02401, HG00381, HG02367, NA19223, NA19351, HG02079, HG00267, HG02116, NA18609, HG03716, NA18873, HG02013, HG02182, HG03470, HG00595, NA18989, NA19011, NA19065, NA18612, NA19074, HG03864, HG02760, NA18998, HG03812, HG03559, HG01795, NA20853, NA19055, HG03652, HG03965, NA18592, HG04229, HG01079, HG02648, NA18561, HG04202, NA19704, NA18507, HG03589, NA18641, NA18603, NA12045, HG03558, HG02360, NA19092, HG03280, NA19819, HG02277, HG02058, HG00452, NA21115, NA18625, NA19190, NA18526, NA18962, NA19068, HG01250, NA19076, HG03706, HG03099, NA18595, HG00689, HG02541, NA18635, HG04144, HG02620, NA19916, HG01459, HG00458, HG01599, HG00634, NA18942, HG01816, HG02854, NA19197, HG02655, HG02374, NA19023, NA19054, HG03479, HG00590, NA19038, HG03868, NA18749, HG00277, HG02395, HG02315, NA18560, HG03746, HG02885, HG01046, NA19075, HG03624, HG01176, NA19087, HG03995, NA19002, HG02138, NA20884, HG02946, NA19209, HG03583, NA20587, HG03832, HG00530, NA19451, NA18638, HG00675, HG00464, HG00543, HG02166, HG00560, HG02570, NA18613, HG00629, HG02136, HG03644, NA19077, HG02582, HG00428, NA18644, HG02511, HG02076, HG00475, HG02554, NA19982, HG01810, HG00584, NA18910, HG03756, NA18976, HG01852, HG03563, NA19118, NA19000, HG00844, NA19655, HG03202, HG02604, HG02048, HG01241, NA18946, HG02081, NA19225, HG00141, HG01865, NA19160, NA18536, HG02408, HG02399, HG01589, HG00128, NA19401, NA18978, HG04219, NA18535, NA19108, NA18543, NA18559, HG02759, HG03367, HG00565, HG04239, HG03838, HG02983, HG02064, HG01800, HG03689, NA20351, HG01598, HG00631, HG03433, HG00607, HG01260, NA19786, NA21094, HG03557, HG03419, HG04003, HG03681, HG03019, HG02181, HG00125, HG01801, NA19323, HG03432, HG00707, HG00672, HG03039, NA19248, HG00446, HG03442, NA19438, NA20582, HG01028, NA18987, HG01783, NA19713, HG02396, HG00343, HG03538, HG01883, HG00252, HG03445, NA18984, HG00472, HG03922, NA18505, NA19004, HG01863, HG02808, HG01583, NA19153, HG02386, NA18745, HG04210, HG00542, NA12842, HG03121, HG02072, HG03378, HG00671, NA19066, HG00242, NA18508, HG00559, NA18565, HG02375, HG02026, NA20514, HG04158, HG03753, HG02784, HG02122, HG02029, HG02727, HG02078, HG02012, HG00244, NA18639, HG01806, HG02804, HG03298, HG01802, HG03926, NA12340, NA18959, NA18616, HG02589, HG00654, NA12399, NA18602, NA18988, NA18969, NA18627, HG00271, NA18563, NA21135, NA18940, HG03016, HG03168, NA18597, HG03754, HG02952, HG00674, HG04042, NA18571, HG03224, HG02733, HG01840, HG00334, HG00451, HG00185, HG02981, NA20539, HG02143, HG00867, NA21109, NA11932, HG02187, NA19372, HG03691, HG00705, HG01525, HG02190, HG03814, NA20889, NA18990, HG01048, NA20127, HG02477, NA21105, NA18539, HG04075, HG03784, HG02164, NA19027, HG02047, HG03343, HG02442, HG02820, NA19908, NA18747, HG00443, HG01171, HG00380, NA18525, NA19006, HG02075, HG02345, HG00557, HG00245, HG00360, HG01789, NA18933, HG02678, HG02057, HG04195, HG01882, HG00132, HG03457, HG00556, HG00275, NA18579, HG02522, HG01077, HG03805, HG02508, HG01323, NA18534, HG01029, HG03967, HG00284, HG03472, NA18573, HG00651, HG00250, NA18626, HG00531, NA19042, HG03713, HG02787, HG01870, HG03802, HG03388, HG00684, HG03631, HG02309, NA19099, HG03971, HG02979, NA18555, HG03046, NA18963, HG00704, NA18570, HG02594, HG00240, HG02568, NA19012, NA18974, NA19017, NA18953, HG00407, NA19375, HG01812, NA18632, HG00155, NA21117, NA19309, NA19390, HG04006, NA19149, HG00625, NA19019, HG01878, NA19072, HG04186, NA12272, HG01685, NA19090, HG00473, HG02179, HG02941, HG03304, NA19783, HG03779, NA18501, HG03112, HG02095, HG04014, HG00342, HG02107, NA20852, HG00310, HG01600, HG03872, HG00728, NA18983, HG00105, HG02763, HG01431, NA19430, NA19312, HG02020, NA18968, NA12890, HG02805, NA18623, HG04061, NA18740, HG01805, NA20908, NA21120, NA19676, NA18620, NA18997, HG03741, HG04212, NA21110, HG02890, NA19141, HG03800, HG01098, HG01356, HG00536, HG00231, NA20877, HG01438, HG03163, HG03237, HG01860, HG01855, NA20274, HG04211, HG02337, NA18917, NA18545, HG01686, HG03190, NA19057, NA18596, HG03963, HG03100, HG00566, NA18606, HG03895, HG03792, HG03139, NA19314, HG00327, HG03095, NA18967, HG00127, NA19005, NA18944, HG02153, NA19201, HG03135, HG02810, NA20850, NA19762, HG01853, HG02155, NA19119, NA19198, NA18619, HG03370, HG02130, HG00851, NA18642, NA19088, NA19138, HG01242, HG03079, NA18611, HG03803, NA18970, NA19383, HG03189, HG03268, HG02067, NA18977, NA19917, HG02461, HG03788, HG01308, NA19385, HG03696, HG00422, NA19317, HG01405, NA18986, HG03693, NA19901, HG04185, HG03225, HG02073, HG03058, NA18975, NA20533, NA18954, NA18648, HG00260, HG02009, HG00313, HG00290, NA20854, NA18544, HG03844, NA19210, NA19437, HG01841, HG01871, HG00596, HG01595, NA19152, HG03547, HG00701, HG03636, HG01088, NA19236, NA20895, NA18939, NA18516, HG03428, HG00533, HG00598, NA18637, HG04019, NA20126, NA19658, HG01808, HG02221, HG00619, HG01049, HG00708, NA18757, HG03311, HG01390, NA18566, HG03742, NA19114, HG03871, NA19449, HG03382, HG03476, NA18856, NA12249, HG02884, HG00613, HG00525, HG00321, HG00157, NA12827, HG04152, HG02184, HG02585, HG02031, HG03755, HG03354, HG03774, HG00410, HG01596, HG02484, NA19436, NA19035, NA18546, NA18608, NA21087, HG02455, HG01444, HG03778, HG02807, HG03240, NA19321, NA18961, HG02223, HG02049, HG00366, HG02696, HG02682, NA19435, NA19037, NA18941, HG00278, HG02651, HG00623, NA19380, HG01977, NA18992, NA19439, HG02839, HG01933, NA18643, HG03846, HG02139, NA21126, HG01862, HG02398, HG03565, HG03789, NA21088, NA19060, HG03049, HG02699, HG00656, NA18994, HG02392, HG03022, HG02113, HG03916, HG03684, HG00698, NA19096, HG02186, NA20528, HG02052, HG02028, HG03882, NA19758, HG03072, HG01566, NA18511, HG02284, HG03118, HG03698, HG03129, NA18622, HG02060, HG03886
Known GenesTP63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599059
Frequency
Sample Size2504
Observed Gain0
Observed Loss800
Observed Complex0
Frequencyn/a


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