A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644527



Internal ID7031282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314109..46315478hg38UCSC Ensembl
Innerchr19:46314258..46315364hg38UCSC Ensembl
Outerchr19:46313899..46315688hg38UCSC Ensembl
chr19:46817366..46818735hg19UCSC Ensembl
Innerchr19:46817515..46818621hg19UCSC Ensembl
Outerchr19:46817156..46818945hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16068886, essv16069359, essv16069097, essv16069502, essv16068741, essv16069118, essv16069391, essv16069201, essv16069124, essv16069137, essv16068764, essv16069267, essv16069378, essv16068832, essv16068991, essv16068994, essv16069511, essv16069371, essv16069146, essv16068962, essv16069340, essv16068755, essv16068885, essv16069138, essv16069332, essv16069413, essv16069222, essv16068961, essv16069440, essv16069472, essv16069480, essv16068856, essv16069105, essv16069122, essv16068915, essv16069416, essv16069033, essv16069143, essv16068821, essv16069506, essv16069019, essv16068780, essv16069521, essv16069355, essv16069315, essv16069422, essv16069290, essv16069030, essv16069056, essv16069205, essv16069271, essv16069408, essv16069017, essv16069311, essv16069173, essv16068869, essv16068938, essv16068898, essv16069383, essv16068819, essv16069475, essv16069076, essv16069005, essv16069436, essv16068950, essv16068776, essv16068942, essv16069476, essv16069495, essv16069096, essv16069220, essv16068998, essv16069418, essv16069132, essv16068877, essv16069202, essv16069177, essv16068872, essv16069061, essv16068892, essv16068811, essv16068981, essv16068878, essv16069487, essv16069458, essv16068914, essv16068974, essv16068839, essv16069036, essv16069442, essv16069392, essv16069262, essv16068960, essv16068918, essv16068846, essv16069401, essv16068967, essv16069503, essv16068904, essv16069516, essv16069279, essv16069024, essv16069109, essv16068794, essv16069336, essv16069384, essv16069273, essv16069197, essv16069244, essv16069010, essv16069518, essv16069437, essv16068797, essv16068739, essv16069002, essv16069399, essv16069430, essv16068779, essv16068868, essv16069102, essv16068849, essv16068985, essv16069063, essv16069407, essv16069149, essv16069463, essv16069041, essv16069151, essv16069265, essv16069504, essv16068751, essv16069288, essv16069266, essv16069206, essv16068774, essv16068761, essv16068900, essv16069211, essv16068807, essv16068956, essv16069337, essv16069462, essv16068790, essv16069351, essv16069003, essv16069513, essv16069191, essv16068742, essv16068993, essv16069104, essv16069331, essv16069346, essv16069361, essv16069230, essv16068890, essv16068908, essv16069353, essv16068952, essv16068837, essv16069108, essv16069459, essv16068802, essv16069455, essv16069276, essv16069204, essv16069327, essv16069248, essv16068828, essv16068966, essv16069409, essv16069226, essv16068883, essv16069190, essv16068949, essv16068980, essv16068879, essv16069454, essv16069287, essv16069243, essv16069161, essv16069181, essv16069451, essv16069427, essv16068895, essv16069306, essv16069064, essv16068947, essv16068796, essv16068829, essv16068970, essv16069372, essv16069153, essv16069342, essv16069039, essv16068855, essv16069154, essv16069018, essv16068769, essv16068928, essv16069481, essv16069417, essv16068826, essv16069031, essv16068931, essv16069356, essv16069212, essv16069303, essv16068862, essv16069478, essv16069007, essv16069314, essv16069302, essv16069148, essv16068881, essv16069286, essv16069129, essv16069062, essv16068745, essv16069065, essv16069479, essv16069156, essv16068847, essv16069385, essv16069310, essv16068917, essv16069471, essv16069219, essv16068789, essv16069432, essv16069329, essv16069238, essv16068871, essv16069525, essv16068989, essv16069381, essv16069232, essv16069172, essv16068756, essv16069001, essv16069107, essv16068896, essv16069215, essv16069130, essv16068816, essv16069013, essv16069523, essv16069081, essv16069250, essv16068884, essv16069192, essv16069446, essv16069325, essv16069135, essv16068827, essv16069136, essv16069341, essv16069308, essv16068941, essv16068830, essv16069281, essv16069240, essv16069411, essv16068795, essv16068922, essv16069456, essv16069255, essv16068876, essv16068765, essv16069247, essv16068927, essv16068770, essv16069299, essv16068783, essv16069275, essv16069283, essv16069491, essv16068924, essv16068926, essv16069183, essv16069445, essv16069420, essv16069316, essv16068804, essv16069253, essv16068854, essv16069289, essv16068903, essv16068943, essv16069328, essv16069025, essv16068995, essv16069246, essv16069174, essv16068859, essv16069377, essv16069474, essv16069235, essv16069424, essv16068791, essv16069144, essv16068887, essv16069199, essv16069164, essv16069322, essv16069291, essv16069439, essv16068759, essv16069324, essv16069406, essv16068863, essv16069433, essv16069452, essv16068744, essv16069300, essv16069225, essv16068954, essv16068825, essv16069354, essv16069519, essv16068768, essv16068824, essv16068858, essv16069227, essv16068990, essv16068767, essv16068913, essv16069074, essv16069465, essv16069175, essv16069120, essv16068968, essv16069150, essv16068893, essv16069090, essv16069258, essv16069386, essv16069015, essv16069168, essv16069234, essv16069333, essv16069023, essv16068833, essv16069119, essv16069014, essv16069178, essv16069493, essv16068937, essv16069008, essv16069093, essv16068873, essv16069145, essv16069259, essv16069131, essv16068932, essv16068812, essv16068891, essv16069403, essv16069380, essv16069274, essv16069477, essv16069152, essv16068910, essv16069098, essv16069171, essv16069500, essv16069162, essv16068988, essv16069233, essv16069070, essv16069020, essv16068800, essv16069221, essv16069364, essv16069099, essv16068758, essv16069387, essv16069078, essv16069330, essv16069277, essv16069228, essv16068852, essv16069343, essv16068880, essv16069182, essv16069334, essv16069022, essv16069467, essv16069012, essv16069084, essv16069443, essv16069441, essv16069415, essv16069089, essv16069339, essv16069497, essv16068817, essv16069363, essv16068793, essv16069092, essv16069045, essv16068864, essv16068815, essv16069210, essv16069101, essv16069284, essv16069085, essv16069184, essv16069038, essv16069203, essv16069358, essv16068944, essv16069389, essv16069499, essv16069044, essv16069278, essv16069157, essv16069270, essv16069402, essv16068982, essv16069141, essv16068747, essv16069370, essv16069049, essv16069301, essv16069323, essv16069198, essv16068948, essv16068946, essv16068906, essv16069508, essv16068933, essv16068806, essv16069272, essv16069057, essv16069237, essv16069390, essv16069294, essv16069111, essv16069048, essv16069251, essv16069307, essv16069313, essv16069067, essv16069126, essv16069365, essv16068899, essv16068996, essv16069128, essv16069169, essv16069345, essv16068834, essv16069410, essv16068778, essv16068963, essv16069035, essv16069344, essv16069485, essv16068844, essv16068752, essv16068894, essv16069338, essv16069404, essv16069505, essv16069209, essv16069139, essv16068784, essv16069449, essv16069312, essv16069116, essv16069400, essv16068916, essv16069166, essv16068843, essv16068841, essv16068743, essv16069419, essv16068907, essv16069280, essv16069396, essv16068740, essv16068853, essv16069239, essv16069335, essv16068999, essv16068799, essv16069054, essv16069207, essv16069029, essv16068753, essv16069522, essv16068750, essv16069147, essv16069083, essv16068984, essv16068773, essv16069021, essv16068979, essv16069068, essv16069163, essv16068939, essv16068870, essv16068964, essv16069194, essv16069127, essv16069004, essv16069114, essv16069517, essv16068823, essv16068921, essv16068901, essv16069375, essv16068822, essv16069394, essv16068788, essv16069160, essv16068897, essv16069034, essv16069086, essv16069350, essv16069260, essv16069318, essv16069218, essv16068920, essv16069434, essv16069082, essv16069069, essv16069360, essv16069016, essv16069369, essv16069438, essv16069464, essv16068902, essv16069496, essv16069159, essv16069231, essv16069112, essv16069193, essv16069263, essv16069187, essv16068748, essv16069428, essv16068934, essv16069040, essv16069507, essv16069125, essv16068836, essv16069425, essv16069482, essv16069123, essv16068975, essv16069011, essv16068772, essv16068955, essv16069077, essv16069110, essv16069379, essv16069285, essv16068820, essv16069257, essv16068838, essv16069256, essv16069304, essv16068845, essv16069374, essv16069155, essv16068851, essv16069121, essv16069373, essv16069298, essv16069050, essv16068810, essv16069189, essv16069461, essv16068945, essv16069245, essv16068785, essv16069368, essv16069242, essv16069376, essv16069469, essv16069448, essv16068935, essv16069027, essv16068905, essv16069046, essv16069224, essv16069426, essv16069457, essv16069319, essv16069176, essv16068911, essv16069514, essv16069520, essv16069214, essv16069073, essv16069429, essv16068972, essv16068746, essv16068850, essv16069444, essv16069249, essv16069080, essv16068840, essv16068874, essv16069208, essv16068969, essv16068771, essv16068986, essv16069431, essv16069466, essv16068835, essv16069348, essv16068909, essv16069106, essv16069254, essv16069362, essv16069006, essv16068940, essv16069349, essv16069393, essv16069095, essv16069484, essv16069241, essv16069494, essv16068763, essv16068925, essv16069000, essv16069059, essv16069269, essv16069261, essv16069488, essv16068992, essv16069468, essv16068930, essv16068848, essv16068983, essv16068861, essv16068860, essv16068762, essv16069229, essv16069071, essv16068798, essv16069103, essv16069435, essv16069186, essv16069196, essv16068813, essv16069515, essv16068958, essv16069142, essv16069293, essv16069305, essv16068987, essv16069460, essv16069133, essv16069366, essv16068953, essv16069483, essv16069510, essv16068805, essv16069113, essv16069134, essv16069512, essv16069167, essv16069450, essv16069223, essv16069321, essv16068978, essv16069100, essv16069297, essv16069091, essv16068875, essv16068889, essv16069052, essv16069295, essv16068959, essv16069115, essv16068882, essv16068857, essv16068754, essv16068951, essv16068801, essv16068749, essv16069236, essv16069453, essv16069296, essv16068866, essv16068973, essv16069470, essv16068957, essv16069352, essv16069075, essv16068936, essv16068818, essv16069501, essv16068757, essv16069367, essv16069398, essv16069140, essv16068760, essv16069282, essv16068782, essv16069032, essv16068867, essv16068787, essv16069165, essv16069094, essv16069042, essv16069087, essv16069058, essv16068814, essv16068808, essv16069028, essv16069185, essv16068766, essv16069188, essv16069326, essv16069170, essv16069317, essv16069473, essv16068792, essv16069216, essv16069051, essv16069252, essv16069382, essv16069524, essv16069447, essv16068919, essv16069405, essv16069195, essv16069047, essv16069486, essv16068842, essv16069423, essv16068781, essv16069268, essv16068786, essv16069053, essv16068997, essv16069292, essv16069043, essv16069264, essv16069088, essv16068803, essv16069320, essv16069200, essv16069498, essv16069066, essv16069158, essv16069026, essv16069490, essv16069060, essv16069421, essv16069489, essv16069055, essv16068971, essv16069072, essv16069397, essv16069213, essv16068888, essv16068809, essv16068865, essv16068775, essv16069357, essv16069117, essv16069179, essv16069309, essv16068831, essv16069509, essv16069395, essv16069079, essv16068976, essv16069492, essv16068912, essv16068965, essv16069414, essv16069217, essv16069347, essv16069180, essv16069009, essv16068977, essv16069412, essv16068777, essv16069388, essv16069037, essv16068929, essv16068923
SamplesNA20588, HG00189, HG03593, HG01850, HG00442, NA19058, HG01918, HG01965, NA18621, HG01443, HG00384, HG01031, NA12414, NA21099, HG03175, NA19378, NA21100, NA11920, HG00257, HG02419, NA18999, HG00233, NA20512, HG00729, HG02691, HG03616, HG02017, HG02382, NA19377, HG02154, NA21128, NA18633, HG03069, HG03679, NA12750, HG00337, NA19446, HG00717, HG01873, HG00138, NA19089, HG01350, NA19379, NA19315, HG02690, HG02069, NA18995, HG02140, HG04206, NA20756, NA20911, NA18558, HG03673, HG01492, NA18574, HG03874, HG02299, HG03234, NA12762, HG01528, HG01063, HG03978, HG01365, HG03917, NA19079, NA18949, HG01859, HG04033, NA19720, HG02561, HG00632, NA20775, HG02634, HG03045, HG01849, NA19172, HG03947, HG01973, HG01950, NA19036, NA20412, HG01771, HG01967, HG01550, NA20755, HG01851, HG02134, NA20904, NA18951, NA20892, NA18605, NA20535, NA20800, NA18538, NA19070, HG01122, HG03907, HG02380, HG03786, HG01095, NA20760, NA19717, HG00344, HG03771, NA18572, NA18948, HG03781, NA18981, HG00692, HG01047, HG03301, NA19084, HG00690, HG00404, NA11893, HG02121, HG02141, NA18532, NA19059, HG03451, NA19009, HG03006, HG00463, HG01936, HG04176, HG02635, NA18593, HG04093, HG01625, HG01107, HG03694, HG01896, HG01811, HG01257, HG02772, HG00611, HG04216, HG01597, NA18517, NA21144, HG04026, HG03708, HG03949, HG02355, HG01874, HG02391, NA19010, HG03702, HG02232, HG00116, NA19083, HG02188, HG01342, HG03973, HG02133, HG03729, HG01861, NA19117, HG03600, HG00614, HG02379, HG02128, HG01577, HG00513, HG00478, NA19785, NA18631, HG02401, HG01912, NA19223, NA19779, HG01799, NA19102, NA18873, HG01269, NA20826, HG02348, HG01794, HG00595, HG02947, HG01920, NA18989, NA19129, HG00628, NA18624, HG02851, HG03867, HG03815, NA18612, HG02406, HG01776, NA19074, HG01437, HG00581, NA18577, NA20772, HG00593, NA18998, HG01746, HG01413, NA19648, HG00121, NA19055, HG03652, HG03965, NA18592, NA12814, HG01359, HG01052, HG04229, NA18561, NA18507, HG03057, HG02150, NA19734, NA18599, HG03589, HG02275, HG00306, NA18641, HG02061, HG03558, HG04094, HG01305, HG02277, HG03772, NA18625, NA20808, HG02734, NA18526, HG02285, NA18962, NA12341, HG01924, NA19746, HG01341, NA18550, HG00251, HG02407, NA19728, NA18595, HG01064, HG02541, HG03937, HG01459, HG00458, HG00330, HG01843, HG01710, HG01599, NA18942, HG02854, NA19197, HG03246, NA19023, NA20540, NA19054, HG03911, HG03629, HG01848, NA19681, HG03762, HG01110, NA19038, NA12761, HG01893, HG01134, NA18749, NA12282, HG00683, HG02003, HG01170, HG00236, HG00262, HG04106, HG02885, NA19075, HG03777, HG02471, NA19087, NA19002, HG03744, NA20884, NA18520, HG02946, NA12828, HG03832, NA19451, HG00675, HG00464, HG02402, NA18613, HG00629, NA19082, HG00982, NA20858, HG01797, NA12342, HG04062, HG02334, NA19077, HG02582, HG00428, HG03760, NA20536, NA18991, HG00475, HG01810, HG00584, HG04035, NA21098, NA18910, NA18976, HG02497, HG01852, NA20770, HG01948, HG02789, HG01392, HG01161, NA19118, HG00844, HG03202, HG02604, HG02008, HG01383, NA19001, HG01921, HG02081, NA06985, HG01403, HG00445, HG03940, NA18646, HG03567, NA19308, HG02613, HG02684, HG02282, HG00119, NA18535, NA18952, HG01954, NA18559, NA19749, HG00742, HG00565, NA18950, HG02064, NA19732, HG01253, HG00631, HG03012, NA19310, HG01260, NA18591, HG00319, HG01108, NA21094, HG02181, NA19818, NA19759, NA19323, HG01606, HG00707, HG00672, NA19248, HG04015, HG01917, HG03646, HG01028, NA18987, HG02938, HG02396, HG03998, HG00343, NA18552, HG00252, HG01464, NA19004, HG01863, HG04161, HG01886, HG02629, HG01191, HG00437, NA20509, HG01976, NA19394, NA18745, NA19701, NA12717, HG01173, HG00304, HG03484, HG02072, HG01462, HG02385, HG00102, NA12286, HG01610, HG03052, NA19204, NA18508, NA10851, NA12273, NA18565, HG02375, HG02026, HG00766, NA20878, HG02122, HG03300, HG01066, HG00315, NA20802, NA18639, HG03298, NA19355, NA20298, HG01802, HG03926, NA20332, NA18959, HG00115, NA18616, NA20517, HG00654, NA20356, NA18602, NA18988, NA18969, NA18627, HG03782, HG02792, HG00663, HG03572, HG03133, NA18940, HG02016, HG03168, HG02105, HG00674, NA20774, HG02383, HG01168, NA18567, HG04042, HG03604, HG02860, HG02085, NA19062, HG04182, HG03578, NA19457, NA21108, HG02733, HG00451, HG02603, HG02278, NA11930, NA20539, HG03619, NA19041, HG01069, HG02252, NA20518, NA20278, HG00148, HG02736, NA11994, HG00534, NA19235, NA18966, HG02190, HG03814, HG02427, HG01198, HG01048, HG01121, NA21105, HG02164, NA20318, HG00743, HG01124, NA18645, HG02716, HG00154, NA18747, HG00443, HG03861, NA19091, NA19006, HG00332, HG02345, HG00557, HG01669, HG03990, NA20885, NA19086, HG02057, NA19984, HG00101, NA20314, HG00556, NA20862, HG01768, HG01142, NA18579, HG02522, HG01345, HG01077, NA18871, HG03805, HG03081, NA18534, HG01029, NA20525, NA18573, NA19461, HG00651, NA21124, NA18626, HG02577, HG00531, HG00479, HG01870, HG03802, HG00684, HG02259, HG01593, NA18553, HG01497, NA18555, HG03914, HG01474, NA18963, HG04159, HG00864, NA18570, HG01572, NA12546, NA19012, HG01148, HG00407, NA19003, NA18632, HG04227, HG01980, HG00625, NA19747, HG01131, NA19072, HG01551, HG00734, NA19090, HG01272, HG01939, HG01396, HG04099, HG02941, HG02274, HG01113, NA19783, HG00620, HG01086, HG02095, HG03642, NA20847, HG02147, HG03097, HG03066, HG01868, NA21102, HG03733, HG01846, HG02107, HG01600, NA20758, NA19080, HG03925, HG01468, HG00728, NA18983, NA20502, HG02763, NA18957, NA11892, HG01125, NA18968, NA19463, NA19063, NA18740, HG01927, NA19346, NA21120, NA21091, NA18620, HG04198, HG00881, NA21097, HG02652, HG01356, HG00536, NA21089, HG03548, HG02298, HG00351, NA20274, HG03738, HG04211, HG02318, HG01280, HG04002, NA19795, NA19057, HG01944, HG00566, NA18606, HG03895, HG03667, HG02895, HG02023, HG01140, NA18967, HG00622, NA19374, HG01571, NA19792, NA19005, NA18944, HG01682, HG02810, HG01853, HG03490, HG01488, HG00448, NA20586, NA18982, HG03873, NA20317, NA18619, NA12348, NA19771, NA18964, HG01393, HG03079, NA20910, HG03803, HG04214, HG03826, HG01455, HG01398, HG03968, HG02512, HG01628, NA18977, HG01281, HG01369, NA19317, HG01673, HG01405, HG03693, HG01259, HG04185, HG02073, NA18864, HG03058, HG02180, NA18975, NA21114, NA20533, NA18640, HG04029, HG02715, NA19200, HG01942, HG00260, NA21106, NA18614, NA11831, HG00313, HG01183, HG01139, NA18544, HG03844, HG02265, HG03054, NA19437, HG01187, HG00596, HG03007, HG02513, HG02025, HG01104, HG01271, HG00533, HG02390, HG00598, HG01119, HG02470, NA18630, HG02537, HG02221, HG00619, HG00708, NA18757, HG03021, HG02364, NA18566, HG01615, NA19449, HG04054, NA21141, NA11894, NA20538, HG01791, HG02086, HG00613, HG00525, HG02292, HG00276, HG01286, HG03755, NA19095, NA18945, HG02484, NA19035, NA18546, HG01444, NA18542, HG03778, HG04188, NA18961, NA19735, HG02696, HG01894, HG03899, NA19037, NA18941, HG01958, NA19380, HG01977, NA18992, HG01494, HG01974, HG01933, NA18643, HG03846, NA19741, HG02139, NA07037, NA19085, HG03108, HG01862, HG04141, HG00107, HG02398, NA18971, HG03789, NA21088, HG03049, NA18994, HG03916, HG03684, HG02239, HG02679, NA19213, NA20528, HG02052, NA19661, HG02028, HG01378, HG03856, HG01082, HG04056, HG02425, HG01566, HG02284, HG03698, HG00180, HG01923, HG01578, NA18622, HG03686, HG00978, NA18965
Known GenesHIF3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644527
Frequency
Sample Size2504
Observed Gain0
Observed Loss787
Observed Complex0
Frequencyn/a


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