A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612721



Internal ID6999621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31550652..31552381hg38UCSC Ensembl
Innerchr7:31550652..31552381hg38UCSC Ensembl
Outerchr7:31550345..31552520hg38UCSC Ensembl
chr7:31590266..31591995hg19UCSC Ensembl
Innerchr7:31590266..31591995hg19UCSC Ensembl
Outerchr7:31589959..31592134hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12720314, essv12720325, essv12720027, essv12719759, essv12720183, essv12719788, essv12719690, essv12719741, essv12719728, essv12719780, essv12720344, essv12720275, essv12720097, essv12720350, essv12720247, essv12719962, essv12719825, essv12720337, essv12719984, essv12720214, essv12720240, essv12719804, essv12720322, essv12719932, essv12720399, essv12720386, essv12719775, essv12719703, essv12720440, essv12720281, essv12719806, essv12720460, essv12719980, essv12719852, essv12719760, essv12720066, essv12720204, essv12719814, essv12720153, essv12720152, essv12720020, essv12720050, essv12720133, essv12720101, essv12720156, essv12719835, essv12720377, essv12720100, essv12719815, essv12720419, essv12720007, essv12719821, essv12719805, essv12719989, essv12719933, essv12719934, essv12719840, essv12720106, essv12719971, essv12719869, essv12719678, essv12719953, essv12720373, essv12719837, essv12719911, essv12719838, essv12719900, essv12719753, essv12719765, essv12720220, essv12719722, essv12720408, essv12719916, essv12719771, essv12719781, essv12720093, essv12719850, essv12720450, essv12720430, essv12720230, essv12719927, essv12719996, essv12719796, essv12719729, essv12720449, essv12720327, essv12719683, essv12720387, essv12719876, essv12720195, essv12719819, essv12719941, essv12720176, essv12720032, essv12719956, essv12720438, essv12720184, essv12720033, essv12720426, essv12720077, essv12720185, essv12719697, essv12720422, essv12720094, essv12719751, essv12720060, essv12720000, essv12719752, essv12720330, essv12720132, essv12719997, essv12720003, essv12719724, essv12720316, essv12719666, essv12720004, essv12720273, essv12719701, essv12720175, essv12720011, essv12720414, essv12720245, essv12720446, essv12720342, essv12720087, essv12720078, essv12719948, essv12720103, essv12720079, essv12719727, essv12719716, essv12720345, essv12720145, essv12719983, essv12720360, essv12720030, essv12720266, essv12720262, essv12720063, essv12720128, essv12719849, essv12720065, essv12720283, essv12719763, essv12719723, essv12720196, essv12719906, essv12720379, essv12720040, essv12719914, essv12720359, essv12720051, essv12719836, essv12720228, essv12720235, essv12720429, essv12719960, essv12719798, essv12720082, essv12720014, essv12720444, essv12719859, essv12720287, essv12719903, essv12720393, essv12720313, essv12720130, essv12720129, essv12719787, essv12720257, essv12720452, essv12719713, essv12720114, essv12719830, essv12719767, essv12719677, essv12719742, essv12720140, essv12720179, essv12719860, essv12720149, essv12719938, essv12720457, essv12720199, essv12720232, essv12719977, essv12719707, essv12720415, essv12720375, essv12720086, essv12719968, essv12719687, essv12720302, essv12719924, essv12720370, essv12719991, essv12720067, essv12719826, essv12719674, essv12720388, essv12720264, essv12720138, essv12720035, essv12719827, essv12719799, essv12720107, essv12720366, essv12720418, essv12720203, essv12719952, essv12720181, essv12720241, essv12719856, essv12719789, essv12720463, essv12720304, essv12720425, essv12720346, essv12719995, essv12719893, essv12720045, essv12720041, essv12720352, essv12720054, essv12720249, essv12720305, essv12719878, essv12719800, essv12720108, essv12720455, essv12720263, essv12720139, essv12719744, essv12720224, essv12719693, essv12720437, essv12719955, essv12720019, essv12720328, essv12720467, essv12720431, essv12719750, essv12720036, essv12720005, essv12720236, essv12720147, essv12720110, essv12719969, essv12719715, essv12719669, essv12720367, essv12720331, essv12720201, essv12719949, essv12720335, essv12720239, essv12720105, essv12720354, essv12719809, essv12720141, essv12720042, essv12719981, essv12720001, essv12719671, essv12719939, essv12720256, essv12720229, essv12720216, essv12719964, essv12720084, essv12720308, essv12720200, essv12719712, essv12720180, essv12720166, essv12720291, essv12720089, essv12720392, essv12720234, essv12720206, essv12720270, essv12720271, essv12720363, essv12719974, essv12720389, essv12720424, essv12720306, essv12719870, essv12719866, essv12719928, essv12720191, essv12720122, essv12720411, essv12720318, essv12720292, essv12719743, essv12720209, essv12719920, essv12719711, essv12719820, essv12719915, essv12720278, essv12719730, essv12720131, essv12720039, essv12720155, essv12720296, essv12720111, essv12720048, essv12719803, essv12720242, essv12719943, essv12720333, essv12720072, essv12719792, essv12719888, essv12719791, essv12720127, essv12719898, essv12720194, essv12719721, essv12720193, essv12720104, essv12720443, essv12720251, essv12719774, essv12719845, essv12720096, essv12719894, essv12720459, essv12720334, essv12720351, essv12720002, essv12720458, essv12719801, essv12720167, essv12719737, essv12720215, essv12720349, essv12719675, essv12719905, essv12719807, essv12719772, essv12719972, essv12720136, essv12719778, essv12720037, essv12719686, essv12719705, essv12720441, essv12720329, essv12720112, essv12720461, essv12720159, essv12719831, essv12720059, essv12719680, essv12720417, essv12720034, essv12720221, essv12720285, essv12720413, essv12720396, essv12719868, essv12719725, essv12719667, essv12719926, essv12720047, essv12720340, essv12720286, essv12720301, essv12720357, essv12719813, essv12719871, essv12719783, essv12720219, essv12719967, essv12720381, essv12720099, essv12719718, essv12719874, essv12719889, essv12720143, essv12720326, essv12720031, essv12719795, essv12719761, essv12719710, essv12720148, essv12720118, essv12720052, essv12719931, essv12720402, essv12719768, essv12719918, essv12720205, essv12720300, essv12720244, essv12719747, essv12719885, essv12720380, essv12720269, essv12719892, essv12720116, essv12720353, essv12720237, essv12720227, essv12720165, essv12719782, essv12720246, essv12720341, essv12720178, essv12719945, essv12719785, essv12720421, essv12720410, essv12719987, essv12720464, essv12720190, essv12720186, essv12719670, essv12720433, essv12720427, essv12720098, essv12720080, essv12720173, essv12719950, essv12720226, essv12719921, essv12720058, essv12720189, essv12719842, essv12720390, essv12720085, essv12720170, essv12720272, essv12720435, essv12720368, essv12720445, essv12720294, essv12719896, essv12719717, essv12719988, essv12719754, essv12719681, essv12719736, essv12719695, essv12720198, essv12719958, essv12719879, essv12720361, essv12719936, essv12719706, essv12719668, essv12720113, essv12720378, essv12719917, essv12719762, essv12719904, essv12720238, essv12720053, essv12719982, essv12720120, essv12720404, essv12720297, essv12720448, essv12719834, essv12719828, essv12720252, essv12719818, essv12719776, essv12720347, essv12720442, essv12720310, essv12720010, essv12720009, essv12719779, essv12720255, essv12719986, essv12720126, essv12720312, essv12720172, essv12720225, essv12720017, essv12719797, essv12719848, essv12719812, essv12720336, essv12720253, essv12720025, essv12720021, essv12719733, essv12720109, essv12719966, essv12719863, essv12720258, essv12719679, essv12720462, essv12719709, essv12720358, essv12720168, essv12719976, essv12720091, essv12719957, essv12719862, essv12719726, essv12720406, essv12720265, essv12719913, essv12720150, essv12719954, essv12719937, essv12720164, essv12720362, essv12720213, essv12719794, essv12720394, essv12720056, essv12719908, essv12719824, essv12719992, essv12720267, essv12720423, essv12719855, essv12719702, essv12720123, essv12719823, essv12719748, essv12719817, essv12720177, essv12719802, essv12720397, essv12720401, essv12720290, essv12720081, essv12720069, essv12719947, essv12719676, essv12720158, essv12720121, essv12719673, essv12720008, essv12720038, essv12720250, essv12720171, essv12719833, essv12719919, essv12720315, essv12719720, essv12720135, essv12719998, essv12719841, essv12719689, essv12720371, essv12719784, essv12720365, essv12719951, essv12720049, essv12720142, essv12720210, essv12720115, essv12720282, essv12719816, essv12719993, essv12719770, essv12720382, essv12720276, essv12720182, essv12719978, essv12719961, essv12719925, essv12720187, essv12720095, essv12719930, essv12720231, essv12720383, essv12719793, essv12720303, essv12720407, essv12720144, essv12720125, essv12719973, essv12719777, essv12719963, essv12719731, essv12719732, essv12720319, essv12720321, essv12719839, essv12719714, essv12720260, essv12719858, essv12719734, essv12720332, essv12719882, essv12719832, essv12720061, essv12720026, essv12720432, essv12720288, essv12719902, essv12720169, essv12720023, essv12719822, essv12720453, essv12720280, essv12720372, essv12720428, essv12720277, essv12719699, essv12720376, essv12720137, essv12719740, essv12719773, essv12719755, essv12720412, essv12719897, essv12719829, essv12720385, essv12720307, essv12719745, essv12720162, essv12720409, essv12719853, essv12719872, essv12720398, essv12720339, essv12720157, essv12720124, essv12719843, essv12719994, essv12720348, essv12719758, essv12720022, essv12719864, essv12720212, essv12720046, essv12719875, essv12720211, essv12719865, essv12720298, essv12719959, essv12719910, essv12719942, essv12719886, essv12719890, essv12720420, essv12720028, essv12719912, essv12719688, essv12720317, essv12720274, essv12720075, essv12719708, essv12720202, essv12720102, essv12720154, essv12720073, essv12720055, essv12719944, essv12720013, essv12720192, essv12720043, essv12720289, essv12720320, essv12719691, essv12720434, essv12720311, essv12720071, essv12719851, essv12720254, essv12719694, essv12720323, essv12720088, essv12719985, essv12719946, essv12719895, essv12719786, essv12719672, essv12720064, essv12720364, essv12720068, essv12720012, essv12720405, essv12719907, essv12720338, essv12720146, essv12719965, essv12720384, essv12719935, essv12719764, essv12720163, essv12720024, essv12719685, essv12720309, essv12720134, essv12720188, essv12720454, essv12720451, essv12720076, essv12719887, essv12720208, essv12719975, essv12720015, essv12720279, essv12719899, essv12720466, essv12720355, essv12720217, essv12719970, essv12720447, essv12719692, essv12720160, essv12719846, essv12720083, essv12720057, essv12719999, essv12719704, essv12720293, essv12719749, essv12720006, essv12719940, essv12719682, essv12719880, essv12720268, essv12719738, essv12719700, essv12720151, essv12720343, essv12719990, essv12720233, essv12720070, essv12719922, essv12719810, essv12720456, essv12720259, essv12719696, essv12720295, essv12719844, essv12719757, essv12719808, essv12719756, essv12720223, essv12720356, essv12720218, essv12720117, essv12719884, essv12719923, essv12720016, essv12719857, essv12720395, essv12720062, essv12720243, essv12720248, essv12720174, essv12720261, essv12720092, essv12720284, essv12720391, essv12719746, essv12719877, essv12719847, essv12719929, essv12720374, essv12720416, essv12720436, essv12719811, essv12720403, essv12720044, essv12719769, essv12719735, essv12720018, essv12720324, essv12719854, essv12720400, essv12720090, essv12719901, essv12719684, essv12720207, essv12719873, essv12720119, essv12720222, essv12719719, essv12719881, essv12719698, essv12720197, essv12720074, essv12719766, essv12719883, essv12719867, essv12719861, essv12720299, essv12720161, essv12719909, essv12720439, essv12719739, essv12720465, essv12720369, essv12719891, essv12720029, essv12719790, essv12719979
SamplesHG01485, HG00189, HG03593, HG01850, HG00650, NA21111, HG00608, NA18621, HG03228, HG01031, NA21099, HG01602, NA21100, NA12843, NA11920, HG02231, HG02419, NA18999, HG00729, HG02691, HG02600, HG02017, HG01486, NA18878, HG02050, HG03018, HG02382, NA21137, HG01518, HG02154, NA21128, HG01704, NA18633, HG03679, NA12750, NA20806, NA19067, HG00337, HG03837, HG00717, HG01873, HG03603, HG00138, HG03645, HG03770, HG02690, NA18995, HG02140, NA19678, HG02156, HG01167, HG01766, NA20756, HG02595, NA20911, NA18558, NA18960, HG02299, NA18582, HG03234, NA20768, NA12762, HG00355, HG04070, HG03978, NA19079, NA18949, HG01859, HG04033, HG00130, NA20759, HG00632, HG01519, NA20812, HG02389, HG02082, HG01284, HG03947, HG02178, HG01950, HG04047, HG00406, NA21129, NA20757, HG03585, HG01550, NA20755, HG02134, HG01164, HG03697, NA18605, NA20800, HG01847, NA18538, HG00266, HG01501, NA19070, HG01200, HG02070, HG04146, HG01857, HG02380, NA12878, HG01684, HG00657, NA19663, HG01845, HG00344, NA19081, NA20519, NA18948, HG01796, HG02878, NA18981, NA12234, HG00692, NA19064, NA18548, NA18537, HG01762, HG02445, NA21112, HG02121, HG01613, HG02141, HG01130, NA19059, HG02601, NA19009, HG03752, HG00463, NA18531, NA12778, NA19625, NA18593, HG02127, HG01107, HG03694, HG04200, HG01257, HG03720, HG01858, HG00611, HG03598, NA19652, HG03848, NA18533, HG04216, HG01597, NA18564, HG02088, NA18628, NA12873, HG02391, NA20520, NA19010, HG03702, HG02232, HG01620, HG00116, NA18943, NA18615, HG02188, NA12347, HG03973, HG02133, HG03729, HG01861, NA20906, NA20897, HG03600, HG00614, HG02128, HG01765, HG00478, HG02401, HG01804, NA19779, HG03849, HG02079, HG02116, HG01799, NA18609, HG03716, NA19102, HG00112, HG02182, HG02348, HG01794, HG00274, HG02353, HG01756, NA19011, HG00628, HG02351, HG03867, NA19065, HG03985, HG03815, HG01509, NA18612, HG02406, HG01776, HG01437, NA20772, HG03989, HG03864, HG01507, HG00593, NA20762, HG03690, HG03812, HG01746, HG01413, NA19648, NA20853, NA11995, HG03731, NA12814, HG01359, HG03821, HG01052, HG02035, HG04202, HG01188, NA11933, HG01389, NA20813, HG02061, NA18877, HG02360, HG03280, HG00699, HG02058, HG00452, NA18625, HG04164, HG00341, NA20507, NA19669, HG02734, NA12400, HG01809, NA12341, HG01500, NA19746, NA19076, HG02312, HG00109, HG02151, HG03640, HG03757, HG02087, HG04144, HG00458, HG00330, NA20769, HG01945, HG01843, HG01710, NA18942, HG01816, HG00610, HG02655, NA20540, NA19054, HG04131, HG01848, HG03594, NA12761, HG00277, HG03460, HG02493, HG03986, HG02490, HG00106, HG02224, HG01170, HG00236, NA20896, NA18560, HG01527, HG03746, HG01767, NA18617, HG03624, HG03777, HG02471, HG01176, NA12889, NA12815, HG03744, NA20764, HG03750, NA12828, HG03832, HG00530, NA18638, NA21122, NA12748, NA20818, HG02402, HG01136, HG02166, HG00560, HG00629, NA19657, HG00176, NA19082, NA20858, HG01797, HG01384, NA12342, HG04062, NA19462, HG03760, NA18644, NA20536, HG01938, HG00475, HG01810, HG04035, HG04180, HG01094, HG01161, NA19000, HG03824, HG00373, HG02494, HG01197, HG01707, HG01504, HG04155, HG01383, HG01182, NA19001, HG04189, HG02283, HG01842, HG02081, HG01708, HG01865, NA18536, NA21142, HG02408, HG01589, HG00445, NA18646, HG00128, NA18978, HG00476, HG03866, HG03028, HG02684, NA11881, NA12775, HG02501, NA19749, HG04239, HG02064, HG01800, HG01362, HG00136, HG03689, HG01598, HG01951, HG01205, HG00607, NA18629, NA20504, NA18591, HG01108, HG00256, HG03557, HG01991, NA20887, HG02181, HG01801, NA19078, HG00707, HG00672, HG00446, HG04015, NA20868, HG03646, HG02238, HG01028, NA18987, HG00288, HG02396, HG00174, NA12830, HG04209, HG03258, HG00372, HG00472, NA07056, HG01464, HG00345, HG04161, HG00759, HG02629, NA18549, HG01583, HG00437, NA19153, HG01976, HG02386, NA18745, HG04210, NA20761, NA12717, HG01173, HG04096, NA12842, HG02072, HG02385, HG00102, NA20766, HG01624, HG01610, HG00671, HG00559, NA12273, HG00358, NA18565, HG01815, HG00766, HG02122, HG02029, HG02727, HG01806, HG00181, HG01802, HG03926, NA12340, NA20332, HG00115, HG00449, HG01051, HG00261, HG00097, NA20771, HG01522, NA18988, NA18969, HG00271, NA18563, NA21135, HG00272, HG04038, HG02185, HG03754, HG00674, NA20774, HG02383, HG02085, NA07347, HG02733, HG01840, HG00334, HG00451, HG02603, NA11930, HG03619, NA21109, HG00325, NA11932, HG02187, NA18748, HG02190, NA19722, HG03814, HG00160, HG00118, NA18990, HG01844, HG02545, HG01058, HG01709, HG01275, HG02477, HG00253, NA18539, HG02164, NA20753, HG00743, HG02047, HG00154, HG00443, NA19091, HG00282, NA18525, HG01670, NA19006, HG02075, HG00332, HG02345, HG00557, HG01669, NA21119, NA20885, NA18933, HG00101, HG00132, HG00556, HG01768, HG00583, HG01941, NA18579, HG02522, HG03805, HG02508, HG02165, NA18534, HG01607, HG00551, NA19654, HG00324, NA20867, NA11919, HG03730, HG00250, NA18626, HG00531, HG00479, NA20581, HG01870, HG00684, NA20856, HG03953, HG02979, HG03914, NA18963, HG00704, NA12144, HG01680, HG04159, HG00864, HG00246, NA18541, HG01075, NA18974, NA12043, HG02660, HG01148, HG01812, NA18632, HG00155, NA21117, HG00383, HG00265, HG04006, NA19747, HG00353, NA20815, NA19072, HG04186, NA12272, HG03692, HG01551, HG02304, NA21123, NA20530, HG00473, NA20778, HG02179, NA20902, NA19679, HG01113, NA20544, HG03727, HG02019, NA18610, HG01489, HG00339, HG02371, HG02694, HG04140, NA21090, HG04014, HG03733, HG00342, HG01846, HG01302, HG00310, HG01600, HG00280, NA19116, HG03872, HG00728, HG02774, NA20502, HG01807, NA11892, HG01111, HG02778, HG00171, NA18968, NA12890, NA20585, NA12154, HG03955, HG01805, NA20908, HG01786, NA19214, HG00553, NA21120, NA19676, HG03741, HG03514, HG00881, HG03800, HG02652, HG02250, NA21089, NA20877, HG01438, HG00361, HG01773, HG00524, HG01860, HG01855, HG03738, HG01280, NA21092, HG03607, NA18917, HG00367, NA19795, HG01531, NA19777, HG00566, NA18606, HG03895, HG00179, HG01632, HG00879, HG03836, HG02895, HG02023, HG03680, HG01140, HG00327, HG03199, HG01571, NA19005, NA18944, HG04022, HG01779, NA19762, HG01853, NA20586, HG03976, HG02155, NA18982, NA20905, NA12348, HG02130, NA11992, HG00851, NA19771, NA19138, HG01510, NA19782, NA18964, HG04214, HG03897, HG01398, HG03189, HG00379, HG02512, NA20819, HG01628, HG03595, HG01072, NA19731, HG01369, HG00422, HG01673, HG01405, HG03693, HG04238, HG01440, NA20869, HG00309, NA20845, HG04185, HG02502, HG02073, HG00159, HG02180, NA18975, HG00264, HG00260, HG02009, HG01183, HG00290, NA18544, HG02265, HG03908, HG01841, HG02233, HG00145, HG03007, HG01595, HG02513, HG02025, HG01864, HG00653, HG02397, HG01162, HG01515, NA20895, NA18939, HG00320, NA18637, HG03945, HG04019, NA20767, HG03919, HG02221, HG03124, HG02757, HG01049, HG00708, HG03021, HG03742, HG01311, HG03871, HG01512, HG00956, NA11894, HG01791, HG02086, HG00117, HG00613, HG00321, HG00157, NA12827, HG03634, HG04152, HG02031, HG03354, HG03774, HG00410, NA18634, NA20765, NA18608, NA20821, NA21087, HG04188, HG03790, HG01190, HG00285, NA18961, HG02223, HG02651, HG00623, NA20785, NA12046, HG00308, HG01494, NA18643, HG03846, NA19741, HG02139, NA12874, NA19085, NA06986, HG01862, NA20357, HG02398, HG00371, NA19060, HG02699, HG02654, HG03022, HG02113, HG03916, HG03684, HG03615, HG00186, HG01817, HG00698, HG01872, HG03894, HG01781, HG01105, HG01775, HG02425, NA20763, NA07000, HG01869, HG01112, HG00554, HG02006, HG00180, HG01578, HG00978, HG00362
Known GenesCCDC129
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612721
Frequency
Sample Size2504
Observed Gain0
Observed Loss802
Observed Complex0
Frequencyn/a


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