A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586751



Internal ID6627061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010247..89012930hg38UCSC Ensembl
Innerchr1:89010247..89012930hg38UCSC Ensembl
Outerchr1:89009765..89013368hg38UCSC Ensembl
chr1:89475930..89478613hg19UCSC Ensembl
Innerchr1:89475930..89478613hg19UCSC Ensembl
Outerchr1:89475448..89479051hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382684
hg192684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10010572, essv10010221, essv10010461, essv10010497, essv10010395, essv10010828, essv10010630, essv10010067, essv10010311, essv10010005, essv10010499, essv10010479, essv10010240, essv10010667, essv10010494, essv10010776, essv10010500, essv10010708, essv10010199, essv10010401, essv10010048, essv10010589, essv10010186, essv10010236, essv10010238, essv10010249, essv10010800, essv10010301, essv10010206, essv10010294, essv10010386, essv10010606, essv10010644, essv10010650, essv10010210, essv10010454, essv10010662, essv10010058, essv10010316, essv10010147, essv10010412, essv10010299, essv10010574, essv10010523, essv10010601, essv10010506, essv10010696, essv10010749, essv10010720, essv10010085, essv10010480, essv10010584, essv10010118, essv10010230, essv10010352, essv10010625, essv10010456, essv10010042, essv10010211, essv10010247, essv10010040, essv10010180, essv10010491, essv10010779, essv10010111, essv10010398, essv10010253, essv10010539, essv10010134, essv10010686, essv10010671, essv10010804, essv10010722, essv10010146, essv10010399, essv10010549, essv10010557, essv10010746, essv10010518, essv10010132, essv10010251, essv10010014, essv10010198, essv10010204, essv10010068, essv10010339, essv10010689, essv10010742, essv10010069, essv10010860, essv10010338, essv10010575, essv10010488, essv10010801, essv10010714, essv10010640, essv10010707, essv10010376, essv10010383, essv10010559, essv10010569, essv10010851, essv10010140, essv10010593, essv10010761, essv10010137, essv10010825, essv10010273, essv10010733, essv10010775, essv10010647, essv10010089, essv10010185, essv10010411, essv10010379, essv10010467, essv10010773, essv10010426, essv10010432, essv10010700, essv10010669, essv10010047, essv10010413, essv10010792, essv10010161, essv10010797, essv10010532, essv10010073, essv10010262, essv10010056, essv10010055, essv10010598, essv10010021, essv10010785, essv10010482, essv10010677, essv10010445, essv10010588, essv10010846, essv10010300, essv10010286, essv10010565, essv10010217, essv10010078, essv10010321, essv10010179, essv10010176, essv10010283, essv10010124, essv10010039, essv10010844, essv10010713, essv10010228, essv10010237, essv10010681, essv10010631, essv10010120, essv10010107, essv10010436, essv10010197, essv10010637, essv10010721, essv10010218, essv10010716, essv10010072, essv10010463, essv10010280, essv10010345, essv10010520, essv10010447, essv10010187, essv10010838, essv10010645, essv10010820, essv10010521, essv10010278, essv10010609, essv10010735, essv10010097, essv10010503, essv10010366, essv10010718, essv10010133, essv10010790, essv10010384, essv10010471, essv10010665, essv10010490, essv10010203, essv10010209, essv10010334, essv10010728, essv10010561, essv10010755, essv10010784, essv10010028, essv10010564, essv10010832, essv10010074, essv10010353, essv10010823, essv10010004, essv10010580, essv10010046, essv10010368, essv10010170, essv10010200, essv10010346, essv10010189, essv10010320, essv10010762, essv10010802, essv10010404, essv10010791, essv10010462, essv10010613, essv10010084, essv10010388, essv10010673, essv10010793, essv10010849, essv10010428, essv10010043, essv10010307, essv10010312, essv10010439, essv10010855, essv10010380, essv10010508, essv10010429, essv10010112, essv10010754, essv10010057, essv10010095, essv10010796, essv10010834, essv10010315, essv10010357, essv10010509, essv10010495, essv10010623, essv10010648, essv10010044, essv10010297, essv10010550, essv10010763, essv10010041, essv10010448, essv10010607, essv10010840, essv10010282, essv10010535, essv10010419, essv10010037, essv10010390, essv10010153, essv10010252, essv10010794, essv10010751, essv10010512, essv10010729, essv10010617, essv10010130, essv10010194, essv10010261, essv10010551, essv10010149, essv10010634, essv10010690, essv10010705, essv10010192, essv10010452, essv10010188, essv10010347, essv10010633, essv10010421, essv10010434, essv10010592, essv10010531, essv10010096, essv10010241, essv10010711, essv10010813, essv10010850, essv10010026, essv10010328, essv10010178, essv10010169, essv10010289, essv10010839, essv10010009, essv10010264, essv10010769, essv10010079, essv10010818, essv10010081, essv10010680, essv10010552, essv10010458, essv10010579, essv10010317, essv10010083, essv10010636, essv10010292, essv10010695, essv10010054, essv10010227, essv10010614, essv10010664, essv10010848, essv10010155, essv10010266, essv10010406, essv10010771, essv10010663, essv10010015, essv10010583, essv10010151, essv10010781, essv10010222, essv10010570, essv10010270, essv10010674, essv10010138, essv10010437, essv10010562, essv10010597, essv10010298, essv10010525, essv10010830, essv10010476, essv10010697, essv10010701, essv10010309, essv10010843, essv10010710, essv10010827, essv10010063, essv10010291, essv10010407, essv10010285, essv10010308, essv10010596, essv10010501, essv10010777, essv10010837, essv10010156, essv10010269, essv10010255, essv10010181, essv10010304, essv10010431, essv10010824, essv10010416, essv10010817, essv10010377, essv10010157, essv10010094, essv10010216, essv10010594, essv10010750, essv10010098, essv10010788, essv10010313, essv10010351, essv10010427, essv10010332, essv10010202, essv10010608, essv10010682, essv10010717, essv10010213, essv10010305, essv10010808, essv10010810, essv10010101, essv10010148, essv10010127, essv10010537, essv10010191, essv10010473, essv10010477, essv10010450, essv10010560, essv10010602, essv10010646, essv10010441, essv10010516, essv10010164, essv10010258, essv10010287, essv10010329, essv10010514, essv10010326, essv10010693, essv10010854, essv10010676, essv10010787, essv10010075, essv10010836, essv10010193, essv10010001, essv10010470, essv10010174, essv10010394, essv10010469, essv10010542, essv10010003, essv10010303, essv10010354, essv10010727, essv10010020, essv10010373, essv10010062, essv10010196, essv10010369, essv10010545, essv10010578, essv10010177, essv10010275, essv10010546, essv10010770, essv10010857, essv10010670, essv10010590, essv10010052, essv10010349, essv10010443, essv10010571, essv10010752, essv10010116, essv10010660, essv10010183, essv10010772, essv10010841, essv10010136, essv10010229, essv10010472, essv10010737, essv10010803, essv10010088, essv10010616, essv10010865, essv10010465, essv10010611, essv10010709, essv10010847, essv10010008, essv10010335, essv10010533, essv10010757, essv10010077, essv10010544, essv10010016, essv10010167, essv10010809, essv10010208, essv10010223, essv10010342, essv10010626, essv10010758, essv10010006, essv10010219, essv10010314, essv10010577, essv10010795, essv10010231, essv10010555, essv10010259, essv10010363, essv10010415, essv10010011, essv10010389, essv10010403, essv10010706, essv10010768, essv10010205, essv10010453, essv10010035, essv10010142, essv10010360, essv10010451, essv10010712, essv10010010, essv10010430, essv10010812, essv10010029, essv10010195, essv10010573, essv10010034, essv10010022, essv10010087, essv10010356, essv10010093, essv10010109, essv10010440, essv10010076, essv10010110, essv10010141, essv10010505, essv10010723, essv10010159, essv10010233, essv10010522, essv10010661, essv10010392, essv10010122, essv10010651, essv10010529, essv10010620, essv10010017, essv10010323, essv10010420, essv10010172, essv10010184, essv10010030, essv10010090, essv10010220, essv10010396, essv10010541, essv10010845, essv10010246, essv10010635, essv10010424, essv10010119, essv10010496, essv10010284, essv10010319, essv10010201, essv10010486, essv10010519, essv10010859, essv10010050, essv10010025, essv10010019, essv10010642, essv10010207, essv10010361, essv10010281, essv10010536, essv10010638, essv10010018, essv10010064, essv10010504, essv10010492, essv10010658, essv10010126, essv10010600, essv10010649, essv10010736, essv10010513, essv10010659, essv10010070, essv10010121, essv10010182, essv10010276, essv10010402, essv10010688, essv10010726, essv10010604, essv10010290, essv10010511, essv10010861, essv10010279, essv10010375, essv10010789, essv10010774, essv10010343, essv10010293, essv10010302, essv10010668, essv10010173, essv10010741, essv10010031, essv10010244, essv10010190, essv10010624, essv10010362, essv10010103, essv10010212, essv10010678, essv10010350, essv10010831, essv10010243, essv10010449, essv10010493, essv10010145, essv10010816, essv10010739, essv10010502, essv10010033, essv10010091, essv10010051, essv10010780, essv10010271, essv10010481, essv10010080, essv10010433, essv10010652, essv10010306, essv10010618, essv10010655, essv10010558, essv10010012, essv10010632, essv10010826, essv10010455, essv10010359, essv10010643, essv10010260, essv10010027, essv10010387, essv10010822, essv10010232, essv10010250, essv10010382, essv10010581, essv10010615, essv10010510, essv10010543, essv10010171, essv10010245, essv10010527, essv10010703, essv10010732, essv10010224, essv10010385, essv10010288, essv10010798, essv10010023, essv10010032, essv10010799, essv10010599, essv10010748, essv10010105, essv10010863, essv10010553, essv10010585, essv10010422, essv10010862, essv10010114, essv10010485, essv10010144, essv10010534, essv10010734, essv10010099, essv10010566, essv10010256, essv10010554, essv10010759, essv10010024, essv10010556, essv10010007, essv10010425, essv10010423, essv10010168, essv10010815, essv10010684, essv10010400, essv10010274, essv10010530, essv10010586, essv10010267, essv10010605, essv10010277, essv10010324, essv10010484, essv10010038, essv10010123, essv10010135, essv10010115, essv10010835, essv10010687, essv10010086, essv10010524, essv10010344, essv10010475, essv10010756, essv10010365, essv10010740, essv10010622, essv10010295, essv10010694, essv10010627, essv10010807, essv10010853, essv10010685, essv10010767, essv10010526, essv10010082, essv10010538, essv10010092, essv10010225, essv10010214, essv10010515, essv10010045, essv10010364, essv10010254, essv10010540, essv10010060, essv10010325, essv10010766, essv10010163, essv10010628, essv10010517, essv10010698, essv10010061, essv10010842, essv10010248, essv10010778, essv10010348, essv10010672, essv10010143, essv10010100, essv10010691, essv10010242, essv10010814, essv10010158, essv10010444, essv10010666, essv10010175, essv10010397, essv10010548, essv10010340, essv10010856, essv10010464, essv10010744, essv10010367, essv10010370, essv10010391, essv10010117, essv10010679, essv10010065, essv10010852, essv10010331, essv10010657, essv10010738, essv10010355, essv10010129, essv10010113, essv10010265, essv10010805, essv10010071, essv10010002, essv10010327, essv10010765, essv10010819, essv10010393, essv10010013, essv10010468, essv10010410, essv10010128, essv10010731, essv10010131, essv10010715, essv10010049, essv10010234, essv10010263, essv10010435, essv10010438, essv10010459, essv10010858, essv10010036, essv10010743, essv10010487, essv10010783, essv10010337, essv10010371, essv10010272, essv10010381, essv10010446, essv10010102, essv10010333, essv10010318, essv10010567, essv10010719, essv10010268, essv10010753, essv10010821, essv10010745, essv10010639, essv10010782, essv10010330, essv10010372, essv10010507, essv10010322, essv10010547, essv10010106, essv10010478, essv10010811, essv10010239, essv10010610, essv10010725, essv10010864, essv10010405, essv10010466, essv10010730, essv10010675, essv10010341, essv10010764, essv10010160, essv10010629, essv10010442, essv10010563, essv10010125, essv10010612, essv10010336, essv10010162, essv10010166, essv10010683, essv10010460, essv10010165, essv10010139, essv10010786, essv10010457, essv10010310, essv10010417, essv10010653, essv10010296, essv10010587, essv10010414, essv10010528, essv10010656, essv10010059, essv10010489, essv10010621, essv10010747, essv10010358, essv10010760, essv10010066, essv10010108, essv10010226, essv10010235, essv10010641, essv10010702, essv10010418, essv10010154, essv10010498, essv10010582, essv10010591, essv10010619, essv10010104, essv10010408, essv10010576, essv10010257, essv10010053, essv10010150, essv10010724, essv10010704, essv10010474, essv10010595, essv10010378, essv10010829, essv10010568, essv10010692, essv10010654, essv10010806, essv10010833, essv10010152, essv10010603, essv10010374, essv10010483, essv10010699, essv10010409, essv10010215
SamplesNA18642, HG00613, HG01878, HG00380, HG02724, HG01776, HG00864, HG03858, NA20876, NA12154, HG03705, HG02649, NA18951, NA19089, HG01896, HG02298, NA18535, NA12286, NA21110, HG03631, HG01941, NA20752, HG01089, HG02661, HG00437, HG00112, HG00131, NA20544, NA20796, HG01105, HG01277, HG02060, NA11918, HG02088, HG02255, HG01079, HG01777, HG01845, HG01389, HG02139, HG02648, HG00463, HG01403, HG03896, HG04056, HG01365, NA19334, NA19923, HG02153, HG04060, NA19331, NA20800, HG01082, NA18953, HG01488, HG03829, NA18947, HG04186, HG00542, HG03642, HG03653, HG01200, NA20894, HG01605, HG02375, HG02694, NA18546, HG01167, NA12058, NA20805, HG00111, HG00334, HG00404, NA19320, NA20763, HG04214, HG04020, HG02685, HG03796, HG01936, HG04152, HG02805, NA20803, HG00353, HG02047, HG02133, HG02973, HG00290, HG00554, HG01468, HG00158, HG01148, NA20505, NA11919, NA12763, HG01384, HG04144, NA19076, HG01312, HG01375, NA12004, HG01305, NA18635, NA19197, NA19443, HG02221, NA18623, HG01048, NA20530, NA18990, HG03636, NA18636, HG01124, NA19083, NA12273, HG02016, HG03793, NA18959, HG03520, HG03851, NA11843, NA11831, NA12400, NA18637, NA20520, HG01253, HG04063, HG00243, HG02380, HG00407, NA19086, HG00343, NA12144, NA20847, HG03895, HG00097, HG00844, HG02236, HG03757, HG01097, HG00233, HG00653, HG03792, HG03922, NA20760, HG02541, HG00732, HG03660, HG03854, HG03673, HG01486, NA12275, HG01773, HG01670, HG02651, HG03788, NA20542, HG00534, HG01805, HG04093, NA21092, HG03228, HG03713, HG04134, HG02190, HG00109, NA12890, HG01137, NA20911, NA19723, NA20276, HG02070, HG02154, HG04019, HG03990, NA12812, NA20850, HG03716, HG02181, NA18631, HG03172, HG03078, NA19818, HG03615, HG01802, HG01945, HG02187, NA18548, NA11830, NA20810, NA18944, HG00238, NA20886, HG00142, NA20869, HG01275, HG02089, NA19006, HG00708, NA18610, NA20872, NA12045, NA11932, HG00566, HG02445, HG03830, HG03908, HG00119, HG00625, NA20804, HG00626, HG03695, HG03907, HG02855, NA19779, HG03991, HG02396, HG01474, HG03006, HG03625, HG00323, HG04131, NA19137, NA18964, HG00734, HG01359, HG00318, HG00356, NA20514, HG03785, HG01675, NA11930, NA21125, NA07037, HG01612, HG01250, HG02184, HG03985, HG00344, HG01130, HG01072, NA20866, HG01873, NA18874, HG03874, HG01858, HG03693, HG01506, NA20508, NA18639, NA20802, HG01847, NA11931, HG01431, HG00117, HG03709, NA20808, HG01685, HG04183, NA20342, HG01432, HG01524, NA18573, NA20778, NA20786, HG01049, NA19782, HG00553, HG01286, HG01704, HG00122, HG02146, HG04216, NA20588, HG02790, HG01577, NA19004, NA19678, NA18965, HG02778, NA19780, NA19467, HG01551, HG03159, HG03756, HG01784, HG01435, HG00342, HG04038, HG00266, HG03690, HG03846, HG04238, HG00321, HG02053, NA19914, NA20761, NA19067, NA20854, HG04210, NA12843, NA20533, NA20885, HG00371, HG00250, HG01140, NA18508, NA19054, NA21108, HG01456, HG02137, HG03736, NA20819, HG02654, NA12282, NA20515, NA21088, HG02696, HG01672, HG02397, HG01414, NA12383, NA18566, HG02121, HG00140, HG01865, NA18960, NA18563, HG02142, NA20504, HG01595, HG02292, HG03686, NA19722, NA19792, NA21127, NA12762, NA12873, HG00231, HG02032, HG00372, HG02658, NA18991, HG01785, HG03884, NA20807, NA12814, NA20754, HG01620, HG00628, HG03862, HG04194, HG03727, NA19351, NA11933, HG00150, HG01556, HG03965, NA19774, NA20765, NA20882, HG03871, HG01977, NA12829, HG01113, HG01136, HG01527, HG04099, NA20282, HG00264, NA19773, HG01707, HG02356, HG03604, NA19658, HG00637, NA19681, HG00254, HG03864, NA19663, HG03600, HG03595, HG00357, HG04227, NA18634, NA20589, HG03971, NA18970, NA19316, NA19684, HG00133, NA18539, NA20773, HG02224, HG01497, HG01797, NA12006, HG02058, HG02603, HG04059, HG02283, HG03773, HG00620, NA20901, HG02490, NA19785, NA21143, HG00108, NA18537, HG02383, HG03190, NA19759, HG01705, HG02019, HG03195, HG03998, NA18572, NA18954, NA19703, NA20536, HG01066, NA19393, NA20767, HG03995, NA20512, HG00382, HG01806, HG03914, HG03919, NA06986, HG01455, HG03649, NA20334, HG03754, HG00260, HG01121, HG00560, NA18558, HG01369, HG04239, HG02401, HG00282, HG02343, HG03740, HG03873, HG01676, HG01786, NA20818, HG00478, HG01923, NA18564, HG00116, HG01139, NA19347, NA20828, NA19332, HG02147, HG00513, HG04212, HG02384, NA20821, HG00341, HG01070, HG00105, HG01509, HG03738, HG03945, HG02690, NA19462, HG00589, HG01598, HG03943, NA20891, HG02026, HG03175, HG02345, HG02406, HG00151, HG01259, HG01779, NA11832, NA10851, NA20581, HG01162, HG01757, HG00595, NA20534, HG01326, HG04155, HG01393, HG02067, NA18599, HG00181, HG01405, HG02235, HG00611, HG03629, HG03745, HG03789, NA18995, HG02182, HG03679, HG04047, NA20799, HG01586, HG01673, HG01953, HG01872, HG02134, HG03986, NA18565, HG00138, HG02604, HG02075, HG03989, HG00262, HG00362, HG03702, NA18560, HG00580, NA18971, HG01669, NA18602, HG02186, HG02262, NA18577, NA20507, NA18533, NA18946, NA19770, NA19749, HG01783, HG03890, HG02891, NA20812, NA12842, HG01058, HG03857, NA19916, HG01808, NA20832, HG01251, HG02286, NA18611, HG03016, HG04189, HG01791, HG02399, HG03838, HG00324, NA20528, HG04054, NA18549, HG01522, HG01102, HG01631, HG02391, NA06994, NA20870, HG00336, NA12760, NA20502, HG01857, NA20517, HG03730, HG04195, NA19750, NA19007, NA20519, HG03490, HG01710, HG02215, HG02774, HG01503, NA20899, NA07000, HG00381, HG00128, HG00361, HG01870, HG01607, HG02140, NA19012, HG02808, HG03697, NA20903, NA12489, HG00537, HG00252, HG02657, NA18605, NA07347, NA20787, NA18616, NA20771, HG03668, HG01530, HG02272, NA20527, HG01284, HG00619, NA20862, HG00234, HG01519, NA19819, NA12342, HG00129, HG00350, HG00978, HG03744, NA19114, HG03711, HG01173, NA11920, HG00171, HG01083, HG03478, NA20510, HG03741, NA18526, HG01885, NA20531, HG04096, NA12815, NA18545, NA18603, NA20759, HG01197, HG01051, HG02783, HG01615, NA12828, HG02946, HG01174, HG00368, NA19920, HG03746, HG01350, NA21104, HG01762, NA20539, HG01708, HG01920, NA19651, HG03967, HG04176, HG04180, HG00280, HG01168, HG03833, NA19682, HG01142, NA20798, HG00737, HG00253, NA18557, NA20755, HG01608, NA12287, NA20521, NA18943, NA19761, NA18949, HG01597, HG03652, NA12414, HG03941, HG01107, NA19062, HG02731, HG02390, NA19085, HG00346, HG04075, HG01392, HG00240, HG00308, HG01378, NA20811, HG00096, HG01402, HG01756, HG00759, HG01061, HG01398, HG01709, HG00692, HG01183, HG03681, HG03898, HG03926, HG02385, HG03007, HG00451, HG03887, NA11995, HG00634, HG00276, NA12777, NA19700, HG01596, HG01747, NA19082, HG03722, NA21102, HG01625, HG03742, HG03780, NA12751, NA20769, HG01242, HG01111, HG01437, NA19080, NA20587, NA18747, HG01465, HG02449, HG00110, HG04141, HG02382, HG01191, NA21128, NA18939, HG00325, NA20790, HG00185, HG00383, NA19027, HG02461, NA20753, NA20852, NA21141, HG03934, HG01069, HG00102, HG00277, HG03096, HG00103, HG01080, NA20815, HG02087, HG01630, HG04162, NA12283, HG01512, HG01531, HG02299, NA20355, HG02374, HG00120, NA20525, HG01809, HG02491, NA12272, HG01095, HG04033, HG03589, HG00717, HG01801, HG01939, NA18538, HG01632, HG01256, NA12889, NA19431, HG04035, HG03999, NA12878, NA18614, HG02252, HG03708, HG01485, HG00285, HG04039, HG02408, HG01323, HG01951, HG02271, HG02682, NA20792, NA19756, NA20904, HG00690, HG00641, HG03885, NA18615, HG02188, HG03720, NA19087, HG04182, HG02425, HG00126, HG03777, NA19746, HG00531, HG01354, HG02253, HG03091, HG01617, HG01686, NA18962, HG01613, HG00881, HG03963, HG03832, NA19436, HG04146, NA21142, NA12750, HG02108, NA12748, NA20890, HG01700, HG02116, HG04003, HG02697, HG03977, NA18561, HG04202, HG02086, HG03703, NA07056, HG02655, HG00596, NA19783, HG01098, NA06989, HG02006, NA12340, NA18993, HG03643, NA20511, HG01085, HG02014, HG02048, HG01492, HG01528, NA20529, HG00173, HG03973, NA21130, HG02379, HG00190, HG01131, HG00106, HG01680, NA20900, HG01188, HG01461, HG03750, NA19648, HG03765, HG02232, HG03960, NA21120, NA12341, NA12044, HG01504, NA18626, NA19776, NA19438, HG00543, HG01254, HG04219
Known GenesGBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586751
Frequency
Sample Size2504
Observed Gain0
Observed Loss865
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer