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 Variantsessv14274090, essv14273773, essv14274053, essv14273969, essv14274047, essv14273611, essv14273615, essv14273627, essv14273764, essv14273507, essv14273588, essv14273422, essv14273726, essv14273850, essv14273649, essv14273958, essv14273834, essv14273602, essv14273518, essv14273516, essv14273978, essv14273631, essv14273856, essv14273486, essv14273791, essv14273669, essv14273584, essv14273546, essv14273580, essv14273749, essv14273884, essv14273823, essv14273794, essv14273352, essv14273431, essv14273890, essv14273843, essv14273377, essv14273780, essv14273769, essv14273505, essv14273918, essv14273993, essv14273982, essv14273577, essv14273578, essv14274018, essv14273616, essv14273371, essv14273303, essv14273614, essv14273619, essv14273811, essv14273591, essv14273374, essv14274004, essv14273828, essv14273485, essv14273504, essv14273992, essv14273797, essv14274007, essv14273605, essv14274035, essv14273432, essv14274002, essv14273883, essv14273461, essv14274027, essv14273995, essv14273681, essv14274051, essv14274039, essv14273961, essv14273987, essv14273612, essv14273728, essv14273604, essv14273648, essv14273846, essv14273452, essv14273874, essv14273643, essv14273307, essv14273897, essv14273870, essv14273654, essv14274092, essv14273358, essv14273837, essv14273779, essv14273543, essv14273840, essv14273416, essv14274048, essv14273988, essv14273967, essv14273928, essv14273409, essv14273341, essv14273980, essv14273484, essv14273328, essv14274061, essv14273308, essv14273360, essv14273350, essv14273421, essv14274066, essv14274033, essv14273894, essv14273514, essv14273844, essv14273873, essv14273701, essv14273460, essv14274022, essv14273822, essv14273412, essv14273862, essv14273659, essv14273551, essv14274057, essv14273333, essv14273312, essv14273784, essv14273760, essv14273596, essv14274038, essv14273826, essv14273398, essv14273772, essv14273565, essv14273413, essv14273357, essv14273467, essv14273966, essv14274040, essv14273671, essv14273370, essv14273746, essv14273886, essv14273548, essv14273476, essv14273656, essv14273949, essv14273965, essv14273541, essv14273424, essv14273528, essv14273901, essv14273647, essv14273399, essv14273645, essv14273501, essv14273922, essv14273878, essv14273621, essv14273494, essv14273454, essv14273570, essv14273311, essv14273687, essv14273959, essv14274093, essv14273401, essv14273524, essv14273320, essv14273628, essv14274008, essv14273359, essv14273322, essv14273555, essv14274072, essv14273991, essv14273973, essv14273841, essv14274034, essv14273445, essv14273946, essv14273634, essv14273689, essv14273345, essv14273847, essv14273310, essv14273839, essv14273502, essv14273522, essv14274054, essv14273585, essv14273468, essv14273406, essv14274029, essv14273557, essv14273688, essv14274078, essv14273721, essv14273790, essv14273361, essv14273971, essv14273836, essv14273372, essv14273910, essv14273490, essv14273408, essv14273708, essv14273633, essv14274083, essv14274020, essv14273379, essv14273463, essv14273429, essv14273968, essv14273807, essv14274071, essv14273491, essv14273382, essv14273745, essv14273512, essv14273798, essv14273698, essv14273583, essv14273748, essv14273957, essv14273955, essv14274088, essv14273903, essv14273785, essv14274052, essv14273845, essv14273771, essv14273941, essv14273812, essv14273301, essv14273809, essv14273521, essv14273499, essv14273660, essv14273936, essv14273854, essv14273820, essv14273737, essv14273418, essv14273655, essv14273620, essv14274042, essv14273887, essv14274070, essv14273981, essv14273909, essv14273864, essv14273347, essv14273618, essv14273651, essv14273902, essv14273778, essv14273848, essv14273694, essv14273691, essv14273525, essv14273569, essv14273410, essv14273744, essv14273503, essv14273640, essv14273453, essv14273977, essv14273810, essv14273326, essv14273974, essv14274009, essv14273904, essv14273646, essv14273601, essv14273996, essv14273952, essv14273924, essv14273723, essv14273916, essv14273562, essv14273964, essv14273857, essv14273459, essv14273624, essv14273662, essv14273394, essv14273441, essv14273622, essv14273699, essv14273363, essv14274001, essv14273450, essv14273587, essv14273940, essv14274080, essv14273747, essv14274082, essv14273753, essv14273531, essv14273781, essv14273644, essv14273642, essv14273434, essv14273344, essv14273623, essv14273770, essv14273558, essv14274012, essv14273944, essv14273590, essv14273851, essv14274041, essv14274031, essv14273487, essv14273366, essv14274045, essv14273373, essv14273963, essv14273830, essv14273849, essv14273509, essv14273471, essv14273439, essv14273625, essv14273658, essv14273330, essv14274073, essv14274074, essv14274014, essv14273724, essv14273827, essv14273889, essv14273456, essv14274003, essv14273731, essv14273448, essv14273369, essv14273914, essv14273750, essv14273717, essv14273353, essv14273853, essv14273575, essv14274055, essv14273833, essv14273700, essv14273813, essv14273561, essv14273711, essv14273488, essv14273908, essv14273457, essv14273686, essv14274037, essv14273356, essv14274026, essv14273489, essv14273617, essv14273690, essv14273881, essv14273400, essv14273327, essv14274006, essv14273742, essv14273538, essv14273912, essv14273568, essv14273469, essv14273861, essv14273818, essv14273482, essv14273970, essv14273985, essv14273446, essv14273774, essv14273715, essv14273829, essv14273497, essv14273825, essv14273321, essv14273470, essv14274084, essv14273739, essv14273455, essv14273639, essv14273796, essv14273725, essv14273438, essv14273860, essv14273898, essv14274060, essv14273763, essv14273730, essv14273368, essv14273510, essv14273553, essv14273440, essv14273979, essv14273652, essv14273637, essv14273679, essv14273673, essv14273997, essv14273559, essv14273858, essv14273534, essv14273718, essv14273411, essv14273392, essv14273513, essv14273336, essv14273665, essv14273814, essv14273466, essv14274043, essv14273885, essv14273563, essv14273668, essv14274059, essv14273696, essv14273325, essv14273666, essv14273386, essv14273405, essv14273606, essv14273571, essv14273435, essv14273496, essv14273407, essv14274069, essv14273703, essv14273650, essv14273415, essv14273626, essv14273896, essv14273869, essv14273831, essv14274013, essv14273542, essv14274085, essv14274056, essv14273741, essv14274017, essv14273712, essv14273819, essv14273582, essv14273876, essv14273937, essv14273332, essv14273529, essv14273500, essv14273506, essv14273472, essv14273803, essv14273919, essv14273932, essv14273362, essv14274015, essv14273447, essv14273397, essv14273566, essv14273436, essv14273816, essv14273670, essv14273523, essv14273800, essv14273704, essv14273338, essv14273713, essv14273478, essv14273888, essv14273935, essv14274065, essv14273635, essv14273720, essv14273526, essv14273547, essv14273549, essv14273882, essv14273334, essv14273905, essv14273483, essv14273793, essv14273933, essv14273442, essv14273697, essv14273934, essv14273795, essv14273768, essv14273707, essv14273395, essv14273875, essv14274050, essv14273754, essv14273719, essv14273480, essv14273319, essv14274075, essv14273532, essv14273474, essv14273437, essv14273929, essv14273867, essv14273832, essv14273451, essv14273404, essv14273895, essv14273855, essv14273762, essv14273556, essv14273449, essv14273710, essv14274089, essv14273348, essv14273444, essv14273755, essv14273925, essv14273735, essv14273343, essv14273931, essv14273530, essv14273863, essv14273430, essv14273423, essv14273776, essv14273806, essv14273693, essv14273539, essv14273414, essv14273567, essv14273930, essv14273842, essv14273926, essv14273316, essv14273351, essv14274049, essv14273420, essv14273315, essv14273613, essv14274091, essv14274046, essv14273786, essv14273339, essv14273304, essv14273948, essv14273799, essv14273782, essv14273680, essv14273572, essv14273329, essv14273324, essv14273323, essv14273380, essv14273783, essv14273789, essv14273775, essv14273384, essv14273354, essv14273465, essv14273544, essv14273675, essv14273511, essv14273581, essv14273493, essv14273520, essv14273477, essv14273378, essv14273313, essv14273598, essv14273391, essv14273381, essv14274010, essv14274021, essv14273960, essv14273752, essv14273376, essv14273709, essv14273787, essv14273758, essv14273732, essv14273999, essv14273994, essv14273684, essv14273331, essv14273945, essv14273540, essv14273552, essv14274086, essv14273554, essv14274064, essv14273661, essv14274032, essv14273947, essv14274087, essv14273804, essv14273638, essv14273899, essv14273306, essv14273692, essv14273913, essv14273672, essv14273765, essv14273636, essv14273907, essv14273702, essv14273402, essv14273880, essv14273733, essv14273592, essv14273603, essv14273576, essv14273375, essv14273835, essv14273443, essv14273346, essv14273921, essv14273734, essv14273609, essv14273900, essv14273657, essv14273757, essv14273714, essv14273917, essv14273939, essv14273475, essv14273393, essv14273608, essv14273761, essv14273305, essv14273986, essv14273365, essv14274076, essv14273519, essv14273367, essv14273383, essv14273821, essv14273641, essv14273593, essv14273428, essv14273403, essv14273302, essv14273527, essv14274044, essv14273610, essv14273859, essv14273387, essv14273425, essv14273972, essv14274025, essv14274058, essv14273942, essv14273920, essv14273838, essv14274077, essv14273740, essv14274068, essv14273695, essv14273676, essv14273574, essv14273537, essv14273388, essv14274000, essv14273498, essv14274005, essv14273589, essv14273481, essv14273866, essv14274019, essv14273788, essv14274028, essv14273630, essv14273976, essv14274063, essv14273983, essv14273337, essv14273951, essv14273805, essv14274016, essv14273427, essv14273632, essv14273389, essv14273683, essv14273998, essv14273923, essv14273314, essv14273927, essv14273390, essv14274030, essv14273597, essv14273417, essv14274081, essv14273792, essv14273492, essv14273892, essv14273756, essv14273419, essv14273801, essv14273777, essv14273385, essv14274011, essv14273517, essv14273678, essv14273560, essv14273984, essv14273595, essv14273706, essv14273727, essv14273550, essv14274024, essv14273607, essv14273533, essv14273433, essv14273962, essv14273564, essv14273600, essv14273865, essv14273396, essv14273950, essv14273599, essv14273891, essv14273716, essv14273664, essv14273705, essv14273426, essv14273911, essv14273340, essv14273852, essv14273877, essv14273535, essv14273906, essv14273515, essv14273594, essv14273573, essv14273808, essv14273342, essv14273462, essv14273464, essv14273943, essv14273938, essv14273872, essv14273802, essv14273579, essv14274062, essv14273817, essv14273495, essv14273536, essv14273953, essv14273736, essv14273954, essv14273990, essv14273871, essv14273893, essv14273364, essv14273682, essv14274079, essv14273545, essv14273479, essv14273989, essv14273677, essv14273663, essv14273674, essv14273458, essv14273879, essv14273815, essv14273473, essv14273685, essv14273767, essv14273738, essv14273729, essv14273318, essv14273824, essv14273586, essv14273915, essv14274067, essv14273868, essv14273975, essv14273956, essv14273766, essv14273759, essv14273335, essv14273317, essv14273653, essv14273743, essv14274036, essv14273349, essv14273309, essv14273751, essv14273722, essv14273508, essv14273355, essv14273667, essv14274023, essv14273629
SamplesHG01850, NA19058, NA20529, HG00608, NA18621, HG00384, HG04222, HG04060, NA21099, HG03717, HG02661, NA18999, NA20512, HG02691, HG02323, HG03521, HG03616, NA19684, NA18530, HG01518, HG02154, NA18633, HG03679, NA12750, NA20806, NA12813, NA19446, HG03603, HG00138, HG00122, HG02690, HG02069, NA20589, HG02140, HG01177, HG02156, NA21130, HG04206, NA20911, NA18993, NA18558, HG03673, NA18547, HG03913, HG03736, NA18618, HG03663, NA18582, HG03234, NA20768, HG01528, HG03978, HG00311, HG00243, NA20291, NA19079, NA18949, HG01859, HG04033, HG00139, HG00130, NA20759, HG03817, HG02597, HG02389, HG01849, HG03380, HG00406, NA18985, NA20757, HG03649, HG03585, HG01550, NA20515, NA19921, HG02134, HG01565, HG01164, HG00137, NA18951, NA20535, NA12489, NA20800, HG01867, NA19070, HG02793, HG03907, HG01857, HG01095, NA20810, HG03928, NA19043, NA19663, HG02731, HG03491, HG01845, HG03900, HG02728, NA20875, HG02014, HG04177, HG03781, NA12234, HG01630, HG00692, NA20876, NA20903, HG01762, NA19084, HG00690, HG03951, NA12829, NA21112, HG02121, HG02141, HG04017, HG01130, NA19059, HG02724, HG03752, HG01936, HG00099, NA18531, NA12778, HG02219, NA19395, HG04118, NA18593, HG04093, HG02127, HG00376, HG04200, HG03934, HG03743, HG03720, HG01858, HG00382, HG04025, HG03598, HG04216, NA18564, HG03920, HG02391, HG01174, HG03702, NA21095, NA19428, HG01798, NA18943, NA12763, HG00662, NA12347, HG03973, HG03703, NA20906, NA20897, HG00614, HG02700, HG02379, HG00513, HG02373, HG00478, NA19785, HG00381, HG01804, NA19779, HG03849, HG02079, HG00267, HG02116, NA18609, HG01631, HG01269, HG00274, HG00595, HG02353, NA18989, HG03867, NA19065, HG03815, HG02406, HG01776, HG01618, HG03989, NA20762, HG03690, HG00626, NA18998, HG01413, HG01441, HG00592, HG01795, HG00121, NA20853, HG01054, NA19055, NA19397, HG01303, HG03965, HG03731, HG03960, NA18592, NA12814, HG03821, HG04229, HG01537, HG01079, HG04194, HG02035, NA18561, NA11933, NA19734, NA18641, HG04094, HG00452, HG04018, NA12058, NA20808, HG00341, HG02734, NA18526, HG01809, HG03950, HG01250, HG01503, HG00251, HG00109, HG03796, HG03706, HG02151, HG03757, NA20890, HG01064, NA18635, HG03937, HG03765, HG04144, HG00330, HG01843, HG01710, HG01816, HG00736, HG00610, HG02655, NA12287, HG03629, NA20513, HG03762, HG01110, HG03594, NA20541, HG03830, HG03793, HG03868, HG01134, NA18749, HG00120, HG02395, HG00683, HG02490, HG02003, HG00236, HG01813, HG01757, NA19719, HG04106, HG01767, HG01046, NA18617, NA19087, HG03995, NA19002, HG03744, HG02138, NA20884, NA19725, NA20764, HG03750, NA19209, HG00178, NA18908, HG03832, HG00530, HG00419, NA18638, HG01603, HG01524, NA20818, HG03709, HG01136, HG03780, HG02166, NA18613, HG02136, HG00183, NA20858, NA20524, HG01384, HG03644, NA19077, HG00428, NA19347, HG01790, NA20536, NA18991, HG00475, HG01612, HG02450, HG01810, HG00584, HG04035, NA21118, HG03756, HG04180, HG01852, HG01777, HG01094, HG01161, HG01619, NA19655, HG00373, HG02494, HG01707, NA20881, NA18946, NA19001, HG03854, HG02081, HG01705, HG01708, HG01679, NA18536, HG03991, NA21142, HG02408, HG03940, NA18646, HG01700, HG03567, NA21143, HG00476, HG03866, HG02684, HG04134, NA18535, NA11881, NA19834, NA18952, NA18543, NA18559, NA12775, HG00742, HG00565, NA18950, HG01800, HG03689, NA07051, HG00631, HG01205, NA18629, NA19786, NA18591, HG00319, NA20803, NA20887, HG02181, HG01801, NA19818, HG01606, HG00707, HG00672, HG01432, HG00409, NA20582, HG00378, HG00329, HG02032, HG01783, HG02396, NA21101, NA12830, HG04209, NA20807, NA18972, HG00343, NA18552, HG01617, NA18984, NA07056, NA19004, HG04161, HG01097, NA18549, HG01191, HG01583, NA20509, HG01747, HG02386, NA12383, NA20882, HG02658, HG00542, NA12717, HG01173, HG04096, HG02385, NA20766, NA12286, HG01624, NA20508, NA19066, NA18565, HG04158, HG02784, HG01815, HG00766, HG02727, HG01066, NA20752, NA18639, HG00181, NA12340, HG03229, NA18959, NA18616, NA20517, HG02384, HG00261, HG03999, HG03478, HG00693, NA18969, HG03009, HG03782, HG02792, HG00663, NA18563, HG03016, HG02016, HG02185, HG03943, HG03754, HG01702, NA19764, HG01351, HG03808, HG01277, HG00674, HG02146, NA20774, HG04042, HG02266, HG03604, HG04182, NA20539, NA12275, HG01069, HG00148, NA11932, HG02187, HG03888, HG03691, NA18748, HG00705, NA20889, HG00160, HG01844, HG01709, HG01275, NA21105, NA18539, HG02164, HG01256, HG01124, HG02047, HG00154, NA18747, HG00282, NA19670, NA19403, HG01669, NA21119, NA20885, NA19086, HG00732, HG00368, HG01979, HG00583, HG00263, HG02522, HG03805, HG01149, NA18534, HG01607, HG01029, NA20525, NA20867, NA18573, NA11919, HG01536, HG00350, NA20581, HG03713, HG02787, HG00684, HG02657, HG03631, HG03643, HG01593, HG03953, HG03969, NA18555, NA18963, HG03672, HG00704, HG01680, HG04159, HG00864, HG00240, NA12546, HG01956, HG01075, NA19012, NA18974, NA12043, NA19017, NA18953, HG02660, HG01148, NA19003, HG00258, HG00383, HG00254, HG04227, HG04006, HG00353, HG01878, NA19072, HG03692, HG01551, NA21123, NA20530, NA20792, HG04099, HG01113, HG01137, HG03727, HG03779, HG00620, HG00339, NA06994, HG04140, HG03642, HG00259, NA20847, NA21090, HG03977, HG01868, NA20849, NA21102, HG04014, HG00342, NA21133, NA21093, HG00280, NA11843, HG03925, HG02681, HG00728, NA18983, HG02774, HG01479, HG00105, NA20502, HG01807, NA18957, NA11892, NA19316, HG02778, NA18968, NA12006, NA18623, NA20585, HG04153, HG04061, HG03955, HG01927, HG01805, NA20754, HG00553, HG00255, NA21091, NA18620, HG01516, NA18997, HG03741, HG04212, HG03773, NA21110, NA19141, HG03800, NA11830, NA21097, HG01521, NA11829, HG00361, HG01773, HG00524, HG00351, HG03237, HG01855, HG01280, NA20531, NA21092, HG03607, HG01970, HG00318, HG00103, NA18545, HG01531, NA20805, NA19777, NA19057, HG03963, HG00566, NA18606, HG03895, HG00179, HG03792, HG00177, HG00879, HG03944, HG03836, HG02023, NA12155, NA07357, NA20846, HG01571, HG04100, HG00127, NA19201, HG01682, HG04022, HG01779, NA20850, HG01853, HG03490, HG02491, HG03976, HG02155, HG03905, NA21103, HG02786, HG02489, NA20910, NA18611, HG03803, HG04214, HG03826, HG01455, HG03897, HG02067, NA20819, HG03595, HG01495, HG03788, HG01281, HG01369, HG00422, HG00309, HG01259, NA19901, HG04185, NA19445, NA20533, HG04029, HG00739, HG00264, HG03862, HG02009, HG01353, HG02737, HG01183, HG01139, HG00290, NA20854, NA18544, HG03844, HG02233, HG01871, HG01595, HG00328, HG02152, HG01104, NA20505, HG01271, HG00653, HG02397, HG04107, HG01515, HG03636, NA19236, HG00320, HG00598, HG03945, NA20767, HG03919, HG01808, NA18630, HG00708, HG01447, HG03742, HG01311, HG00273, HG00956, HG03660, HG03974, HG02086, HG00157, HG03634, HG00276, HG03755, HG03354, HG03774, HG00410, NA18634, NA20534, HG01530, NA19035, NA18608, NA20821, NA21087, NA21113, NA20773, NA20522, HG03778, NA12716, HG03790, HG03809, NA18961, HG02049, HG00366, NA18941, NA20804, HG00278, HG00623, NA19773, NA19380, HG03850, HG00308, NA18992, HG01933, HG03846, NA20516, NA20797, HG04090, NA21126, NA06986, HG01862, HG00107, HG02398, HG04023, HG00371, NA20348, NA18971, HG01491, HG03789, HG03896, HG01556, HG02699, HG02654, NA18994, HG03916, HG03615, HG00186, HG00698, HG01781, HG02186, NA20528, HG01105, HG02051, HG01251, NA19661, HG03856, HG04056, HG02425, NA20763, NA21104, HG01112, HG03698, HG01695, NA12776, NA18965
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


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