A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627638



Internal ID6667785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915509..106918846hg38UCSC Ensembl
Innerchr11:106915509..106918846hg38UCSC Ensembl
Outerchr11:106915113..106919265hg38UCSC Ensembl
chr11:106786235..106789572hg19UCSC Ensembl
Innerchr11:106786235..106789572hg19UCSC Ensembl
Outerchr11:106785839..106789991hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383338
hg193338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14273621, essv14273804, essv14273883, essv14273348, essv14273588, essv14273740, essv14273665, essv14273948, essv14273481, essv14273575, essv14273886, essv14273820, essv14273642, essv14273407, essv14273617, essv14273507, essv14273375, essv14273444, essv14273424, essv14274084, essv14273619, essv14273623, essv14273906, essv14273791, essv14273651, essv14273514, essv14273647, essv14274067, essv14273898, essv14273940, essv14273630, essv14273699, essv14273836, essv14273863, essv14273568, essv14273548, essv14273870, essv14273964, essv14273733, essv14273927, essv14273427, essv14273321, essv14273354, essv14273583, essv14273928, essv14273709, essv14273923, essv14273722, essv14273777, essv14273982, essv14273770, essv14274089, essv14273333, essv14273382, essv14273807, essv14273577, essv14273857, essv14274036, essv14273530, essv14273997, essv14273529, essv14273660, essv14273902, essv14273540, essv14273846, essv14273510, essv14273891, essv14273991, essv14273805, essv14273305, essv14273450, essv14273797, essv14273534, essv14273719, essv14273695, essv14274010, essv14273968, essv14273550, essv14273565, essv14273655, essv14273772, essv14273689, essv14273756, essv14274005, essv14273546, essv14274008, essv14273324, essv14273867, essv14273829, essv14273765, essv14273639, essv14273666, essv14273721, essv14273323, essv14273640, essv14273401, essv14273477, essv14273528, essv14273315, essv14273633, essv14273353, essv14273926, essv14273972, essv14273484, essv14273584, essv14273429, essv14273344, essv14273423, essv14273535, essv14273736, essv14273414, essv14273440, essv14273720, essv14273522, essv14274015, essv14273404, essv14274041, essv14273562, essv14273869, essv14273368, essv14274049, essv14273379, essv14273489, essv14273890, essv14273503, essv14273476, essv14273500, essv14274033, essv14273947, essv14273994, essv14274069, essv14273913, essv14273538, essv14273801, essv14273592, essv14273900, essv14273966, essv14273600, essv14273876, essv14273416, essv14274029, essv14273483, essv14274039, essv14273815, essv14273969, essv14274006, essv14274079, essv14273597, essv14273718, essv14273350, essv14273956, essv14273616, essv14273808, essv14273789, essv14274063, essv14273620, essv14273412, essv14273456, essv14273818, essv14273953, essv14273850, essv14273497, essv14273365, essv14273885, essv14273887, essv14273342, essv14273389, essv14273480, essv14273750, essv14273377, essv14273911, essv14273310, essv14273627, essv14273590, essv14273993, essv14273396, essv14273478, essv14273511, essv14274021, essv14273420, essv14273686, essv14273826, essv14273637, essv14273557, essv14273326, essv14273360, essv14273376, essv14273492, essv14273773, essv14273351, essv14273413, essv14273711, essv14273393, essv14273434, essv14273598, essv14273784, essv14273958, essv14273998, essv14273780, essv14273308, essv14273656, essv14273545, essv14273725, essv14274040, essv14273599, essv14273622, essv14273403, essv14273411, essv14273449, essv14274061, essv14273624, essv14273494, essv14273872, essv14273684, essv14273606, essv14273664, essv14273322, essv14273430, essv14273491, essv14273490, essv14273520, essv14273572, essv14273758, essv14273614, essv14273442, essv14274042, essv14273931, essv14273547, essv14273793, essv14273715, essv14273854, essv14273697, essv14273704, essv14273828, essv14273578, essv14273866, essv14274047, essv14273904, essv14273553, essv14274081, essv14273524, essv14273366, essv14273467, essv14273830, essv14273307, essv14273990, essv14273781, essv14274044, essv14273417, essv14273508, essv14273893, essv14274092, essv14273644, essv14273485, essv14273317, essv14273465, essv14273563, essv14273871, essv14273951, essv14274035, essv14274072, essv14273604, essv14273753, essv14274071, essv14273339, essv14273399, essv14273461, essv14273475, essv14273356, essv14273679, essv14273474, essv14274027, essv14273662, essv14273914, essv14273349, essv14273984, essv14273471, essv14273505, essv14273727, essv14273441, essv14273499, essv14273950, essv14273301, essv14273486, essv14273852, essv14273930, essv14274064, essv14273962, essv14274004, essv14273462, essv14273687, essv14273696, essv14273939, essv14273762, essv14273980, essv14274022, essv14273874, essv14273703, essv14273999, essv14273482, essv14273459, essv14273460, essv14273843, essv14273918, essv14274037, essv14273960, essv14273398, essv14273988, essv14273364, essv14273369, essv14273693, essv14273754, essv14273312, essv14273707, essv14273748, essv14273860, essv14273385, essv14273682, essv14273383, essv14273632, essv14273873, essv14273341, essv14273735, essv14273337, essv14273827, essv14273628, essv14273832, essv14273536, essv14273745, essv14273738, essv14273611, essv14273415, essv14273708, essv14273431, essv14273515, essv14273798, essv14274038, essv14273564, essv14273941, essv14273421, essv14273650, essv14273955, essv14274012, essv14274053, essv14273587, essv14273357, essv14273479, essv14273521, essv14273555, essv14273589, essv14273977, essv14274017, essv14273451, essv14273334, essv14273543, essv14273901, essv14273929, essv14273498, essv14273751, essv14273327, essv14273410, essv14273766, essv14274023, essv14274073, essv14273626, essv14273963, essv14274001, essv14273634, essv14273986, essv14273560, essv14273868, essv14274074, essv14273464, essv14273880, essv14273884, essv14273335, essv14273332, essv14273387, essv14273732, essv14273579, essv14273585, essv14273800, essv14273688, essv14273935, essv14273933, essv14273957, essv14273744, essv14273917, essv14273895, essv14274066, essv14273405, essv14273726, essv14273457, essv14273472, essv14273785, essv14274059, essv14273965, essv14274083, essv14273391, essv14273526, essv14273426, essv14273586, essv14273879, essv14273978, essv14273803, essv14273851, essv14273355, essv14273714, essv14273755, essv14274093, essv14273347, essv14273541, essv14273672, essv14273629, essv14273523, essv14273527, essv14273596, essv14273787, essv14273882, essv14274055, essv14273717, essv14273881, essv14273680, essv14274003, essv14273445, essv14273374, essv14274062, essv14273447, essv14273840, essv14273463, essv14273455, essv14273692, essv14273878, essv14273932, essv14274011, essv14273922, essv14273646, essv14273981, essv14273378, essv14273388, essv14273506, essv14273685, essv14273783, essv14273859, essv14273345, essv14273544, essv14273760, essv14273823, essv14273853, essv14273822, essv14273418, essv14273645, essv14273428, essv14273729, essv14273903, essv14273615, essv14273384, essv14273802, essv14273433, essv14273905, essv14273734, essv14273400, essv14273325, essv14273549, essv14273790, essv14273409, essv14273446, essv14274076, essv14273531, essv14273352, essv14273712, essv14273319, essv14274087, essv14273943, essv14274082, essv14273837, essv14274077, essv14273888, essv14273907, essv14273949, essv14273402, essv14273782, essv14273551, essv14273705, essv14273995, essv14273676, essv14273921, essv14273502, essv14273358, essv14273576, essv14274052, essv14273470, essv14273525, essv14273813, essv14273839, essv14273362, essv14273397, essv14273817, essv14273862, essv14273936, essv14273875, essv14273316, essv14273677, essv14273716, essv14273652, essv14273724, essv14273752, essv14273909, essv14274065, essv14273671, essv14273702, essv14273764, essv14274057, essv14274085, essv14273757, essv14273439, essv14273454, essv14273601, essv14273889, essv14273649, essv14273338, essv14273509, essv14273573, essv14273638, essv14273648, essv14273942, essv14274068, essv14274013, essv14273743, essv14273683, essv14273438, essv14273554, essv14273320, essv14273466, essv14273571, essv14273747, essv14273759, essv14273831, essv14274060, essv14273806, essv14273761, essv14273512, essv14273847, essv14273694, essv14274080, essv14273603, essv14273570, essv14273892, essv14273561, essv14273992, essv14274024, essv14274043, essv14273569, essv14273559, essv14273673, essv14273811, essv14273314, essv14273635, essv14273934, essv14273987, essv14273318, essv14274014, essv14274091, essv14273944, essv14273625, essv14273330, essv14274028, essv14273925, essv14273539, essv14273974, essv14273394, essv14274026, essv14273698, essv14273970, essv14274058, essv14273390, essv14273916, essv14273824, essv14273741, essv14273610, essv14273834, essv14274016, essv14273959, essv14273329, essv14273593, essv14273659, essv14273532, essv14273504, essv14274002, essv14273408, essv14273856, essv14273513, essv14273742, essv14273841, essv14273488, essv14273690, essv14273769, essv14273920, essv14274088, essv14273533, essv14273437, essv14274045, essv14273574, essv14273794, essv14273814, essv14273674, essv14273848, essv14273865, essv14273518, essv14273608, essv14273654, essv14273701, essv14273343, essv14273825, essv14273443, essv14273422, essv14273516, essv14273894, essv14273838, essv14273937, essv14273537, essv14273581, essv14274025, essv14273842, essv14273304, essv14273976, essv14273340, essv14273700, essv14273845, essv14273303, essv14273458, essv14273849, essv14273359, essv14274018, essv14273613, essv14273774, essv14273558, essv14273983, essv14273567, essv14273631, essv14273517, essv14273406, essv14273775, essv14273432, essv14274020, essv14273821, essv14273896, essv14274051, essv14273469, essv14273746, essv14273580, essv14273967, essv14273609, essv14273792, essv14273915, essv14273328, essv14273487, essv14273556, essv14273636, essv14274034, essv14273946, essv14274070, essv14273713, essv14273912, essv14273346, essv14273864, essv14273855, essv14273372, essv14273386, essv14273542, essv14273858, essv14273961, essv14274032, essv14273749, essv14274007, essv14273985, essv14273425, essv14273452, essv14273309, essv14273311, essv14273786, essv14273363, essv14273678, essv14273919, essv14274019, essv14273395, essv14273602, essv14273681, essv14273737, essv14273496, essv14273448, essv14273653, essv14273954, essv14274090, essv14273618, essv14273306, essv14273675, essv14274050, essv14273796, essv14273419, essv14273658, essv14273767, essv14273495, essv14273367, essv14274031, essv14273768, essv14273371, essv14273552, essv14273778, essv14273302, essv14273380, essv14273763, essv14273731, essv14273816, essv14273669, essv14273975, essv14273779, essv14273910, essv14273595, essv14274054, essv14273819, essv14273924, essv14273612, essv14273435, essv14273594, essv14274078, essv14273453, essv14273795, essv14273973, essv14274075, essv14273519, essv14274046, essv14273643, essv14273833, essv14273844, essv14273661, essv14273493, essv14274000, essv14273771, essv14273582, essv14274009, essv14273799, essv14273979, essv14273776, essv14273989, essv14273667, essv14273730, essv14273663, essv14273723, essv14273739, essv14273336, essv14273788, essv14273812, essv14273668, essv14273899, essv14273996, essv14273952, essv14273370, essv14273591, essv14273331, essv14273566, essv14273938, essv14274030, essv14273313, essv14273607, essv14273710, essv14273810, essv14273473, essv14273809, essv14273605, essv14273835, essv14274048, essv14273361, essv14273468, essv14273908, essv14274056, essv14273381, essv14274086, essv14273691, essv14273971, essv14273897, essv14273436, essv14273670, essv14273501, essv14273877, essv14273657, essv14273706, essv14273728, essv14273392, essv14273861, essv14273641, essv14273373, essv14273945
SamplesHG01441, HG01878, HG02724, HG01776, HG00864, NA20876, HG03598, HG01104, NA18951, HG01852, NA18530, NA18535, HG02597, NA12286, NA21110, HG03631, HG00328, NA20752, HG00705, HG02661, HG00274, HG02727, HG00186, NA12347, HG00565, HG01105, HG01277, HG01800, HG02792, HG01079, HG01777, HG01845, HG02152, HG02450, HG03896, HG04056, HG01850, NA21133, HG02681, HG04060, NA20800, HG01816, HG04229, NA18953, HG00428, HG00542, HG03642, HG03616, HG03920, HG00139, HG00739, HG04118, NA12058, HG00683, NA20805, NA20763, HG04214, HG04094, HG03380, NA19236, HG03796, HG03916, HG04023, HG01936, NA20803, NA20853, HG04106, HG04209, NA18950, HG00353, HG02047, HG00290, HG03752, HG03817, HG02081, NA21090, HG01148, NA20505, NA11919, NA12763, HG01384, NA20875, HG04144, HG00406, NA18635, HG03953, HG00259, HG02233, NA18623, NA20530, HG03636, HG01124, NA18592, HG02016, HG03793, NA18959, NA18609, NA21119, NA11843, HG01161, HG04222, HG03603, NA18593, HG00243, NA12234, NA19086, HG00343, NA20847, HG00662, HG03895, NA19055, HG03757, NA19725, HG00267, HG04017, HG01097, HG04025, HG01516, NA18633, NA20291, HG00653, HG03792, HG04161, HG00732, NA12778, HG03660, HG03854, HG03673, NA20884, NA12275, HG02786, NA19002, HG00099, HG01773, NA11892, HG02266, HG01351, HG03788, HG02386, NA19001, NA20766, HG01805, HG04093, HG01702, NA21092, HG03692, HG03713, HG04134, HG00674, HG00109, HG01565, NA21101, HG01137, NA19921, NA20911, NA19035, HG03009, HG01695, HG02154, NA20850, HG02181, HG03925, HG02035, HG03815, NA19818, HG03615, HG02187, NA11830, NA20810, HG01804, HG01275, HG00708, NA11932, HG00566, NA11829, HG01177, HG03830, NA12717, HG00183, NA18908, NA20804, NA20806, HG00626, HG02051, HG01807, HG00704, HG03907, NA18555, NA19779, HG03991, HG02396, HG04107, HG02691, HG03821, NA12043, NA19445, HG01518, HG00318, HG02793, HG03706, HG01603, HG01612, HG02398, HG01250, HG01130, HG00127, NA18952, HG01046, HG02023, HG02086, HG03703, HG04159, NA07056, HG01205, HG02655, NA20516, NA20906, HG01064, NA21123, HG01858, HG00879, HG00736, HG03634, NA20508, HG01849, HG00384, HG02734, NA19003, NA19072, HG00261, HG00707, HG01054, HG04014, NA18639, NA12340, NA18993, NA20881, HG01624, HG03643, NA19670, HG03969, NA12813, HG02014, HG03663, HG03709, NA18591, NA20808, HG00452, HG01528, HG01956, NA21118, NA18969, NA18972, NA20529, HG01432, HG01491, HG01524, HG03973, NA18573, NA18608, NA21130, HG03234, HG00553, HG02379, HG01679, HG00122, HG02146, HG01680, HG02389, HG04216, NA19834, HG03585, NA19017, NA12776, HG03750, HG01029, HG02156, HG03765, NA19004, HG01571, HG03229, HG00366, HG03928, HG03960, NA18965, HG02049, HG02323, HG04100, HG01871, NA19084, HG02778, HG01843, HG01551, HG04061, HG03756, HG01521, NA19043, HG00342, HG01311, HG02003, HG00154, HG03690, HG03846, NA18559, HG00339, NA19428, NA20585, NA20854, NA18998, NA20533, NA20885, HG00371, HG02155, HG02684, HG00179, HG03736, NA18992, HG03672, NA19059, NA20819, HG02654, NA20515, HG00583, HG01618, HG02397, NA12383, NA18957, HG02009, NA19057, HG02121, NA12155, NA18563, NA18618, NA07357, NA20757, HG01595, HG00610, HG03867, HG03774, HG02032, HG01495, HG02658, NA18991, NA20807, HG02373, NA12814, NA20754, NA18531, HG01815, HG03862, HG04194, NA19397, NA20762, HG00330, HG01795, HG03727, HG03844, NA18638, HG03805, NA19066, HG00631, NA11933, NA20541, HG01556, HG03965, NA20882, HG00178, HG00419, NA18547, HG00258, NA12829, HG01113, HG01136, HG04099, HG00264, NA19773, HG01707, HG03604, HG00254, NA19663, NA12830, HG03595, HG04227, NA18634, NA20589, HG00584, HG04185, NA19316, NA19684, NA18539, NA20773, NA12006, NA21099, HG00742, HG03731, HG03773, HG00620, HG01280, HG02490, NA19785, NA21143, NA18620, HG01705, HG02127, HG01413, NA20536, HG01066, NA20767, HG03995, NA20512, HG00382, HG03743, HG01271, HG03919, NA06986, HG01455, HG03649, HG03754, HG03782, HG01853, NA18558, HG03944, NA18941, HG01369, NA18749, NA19901, HG00273, HG03849, HG00282, HG03974, NA18748, HG02787, NA20818, HG00478, NA18564, HG01139, HG04029, NA19347, NA20774, HG02494, NA18613, HG00513, NA20582, HG04212, NA18997, HG02384, NA20821, HG00329, HG00341, HG01447, HG00105, HG01767, NA21095, HG03978, HG03945, NA18974, NA18985, HG02395, HG02690, HG03943, HG01149, NA18606, HG00410, HG01933, HG01979, HG02406, NA18543, NA20858, NA21103, HG01259, HG01779, NA18582, NA18999, NA20581, HG01757, HG00595, NA18552, NA20534, HG03237, NA21126, NA18983, HG02067, HG00181, HG03629, HG03789, HG03790, HG03679, NA19403, HG03866, NA19764, HG01269, HG02134, NA18565, HG00138, HG00663, HG03644, HG03913, NA18646, NA20867, HG03989, HG03702, HG01303, NA18989, HG00409, HG01112, NA19719, HG00378, NA18971, HG00311, HG01669, HG02186, NA19446, NA20509, HG02079, HG02141, HG03905, NA20513, HG03594, NA18946, NA20846, HG02489, HG01783, HG01619, HG01593, NA19655, HG03607, HG03809, HG00422, HG01808, HG01855, HG01251, NA19070, HG02353, NA18984, HG00693, NA18611, HG00251, HG02522, HG03016, NA20768, HG03850, NA20528, HG02136, NA18549, NA21105, HG00137, HG04006, NA19079, NA20524, HG00684, HG01479, HG01631, HG02391, HG03976, NA06994, HG01110, HG01781, HG02784, HG00476, NA20502, HG01857, HG03826, NA20517, HG00278, HG03490, HG01710, HG02774, NA19065, HG01503, HG03950, NA12775, NA19058, HG00381, HG01536, HG00361, HG01607, HG02140, NA19012, HG03755, NA11881, NA18621, NA20903, HG00309, HG00157, NA12489, HG02657, HG03354, HG03900, HG02166, HG03567, NA18616, NA19734, HG01530, NA18534, NA21113, HG01353, NA18630, HG00956, HG03762, HG03940, HG00350, HG02164, HG03744, HG00351, HG01173, HG01859, HG03478, HG03856, HG03868, NA19209, HG03741, NA18526, NA20535, HG01970, NA20531, HG00160, HG04096, HG01927, NA18545, NA20759, HG00614, HG04090, HG00475, HG01174, NA20889, HG00368, HG00148, HG01537, HG01606, NA21104, HG01762, NA20539, HG00698, HG01708, HG02660, NA18994, NA20897, NA18963, HG01844, NA07051, HG03491, HG03951, HG04180, HG00280, HG01134, HG04200, HG00177, HG00319, HG03808, HG04140, NA12287, HG01682, NA18943, NA18949, HG03803, HG03897, HG00592, HG03836, NA19077, HG03955, HG01550, HG02731, HG04206, HG02699, NA20849, HG02700, HG03779, NA21097, NA20764, HG00240, HG00308, NA18536, HG00130, HG01583, HG01709, HG04153, NA18617, NA18641, HG00728, HG00692, HG01183, HG03717, HG00121, HG02385, HG01867, HG04042, HG00276, HG03781, HG01747, NA21102, HG02737, HG03742, HG03780, HG00373, NA19380, HG01810, HG02151, NA19395, NA19786, NA12716, NA18747, HG02185, HG01191, NA20348, HG00766, HG00383, NA20910, HG00255, HG04158, NA18968, HG00263, NA21112, HG01281, HG03934, HG00672, HG01069, HG02069, NA18961, HG00103, HG03778, HG03800, NA20797, HG00524, HG01630, NA21093, HG00236, HG01531, NA19141, NA19777, HG00120, HG02219, HG01094, NA20525, HG01809, HG03691, HG02491, HG01095, HG03888, HG04033, HG04022, NA19201, HG01801, HG01256, NA21087, HG01862, NA18544, HG00608, HG04035, HG03999, HG00530, HG04018, HG02408, NA12546, HG01164, HG04177, HG00623, NA20792, HG00320, HG00690, HG02728, HG00598, HG03720, HG00376, NA19087, NA21091, NA19661, HG04182, HG00107, HG02425, NA18629, HG01617, HG03689, HG03937, HG01515, HG01868, NA20887, HG03963, HG01813, HG03832, HG03698, NA21142, NA12750, HG01790, HG01798, NA20522, NA20890, HG01700, HG02138, HG02116, HG03521, HG01075, HG03977, NA18561
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627638
Frequency
Sample Size2504
Observed Gain0
Observed Loss793
Observed Complex0
Frequencyn/a


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