A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647259



Internal ID6687314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112393..19113094hg38UCSC Ensembl
Innerchr22:19112398..19113089hg38UCSC Ensembl
Outerchr22:19112388..19113099hg38UCSC Ensembl
chr22:19099906..19100607hg19UCSC Ensembl
Innerchr22:19099911..19100602hg19UCSC Ensembl
Outerchr22:19099901..19100612hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16364787, essv16364752, essv16364434, essv16364774, essv16364935, essv16364723, essv16364453, essv16364713, essv16364818, essv16364153, essv16364697, essv16364833, essv16364811, essv16364871, essv16364748, essv16364221, essv16364222, essv16364271, essv16364905, essv16364174, essv16364650, essv16364203, essv16364686, essv16364282, essv16364558, essv16364617, essv16364503, essv16364230, essv16364492, essv16364901, essv16364557, essv16364755, essv16364581, essv16364762, essv16364808, essv16364597, essv16364567, essv16364184, essv16364211, essv16364261, essv16364726, essv16364386, essv16364455, essv16364765, essv16364660, essv16364884, essv16364635, essv16364470, essv16364493, essv16364730, essv16364788, essv16364291, essv16364427, essv16364522, essv16364924, essv16364438, essv16364681, essv16364409, essv16364340, essv16364158, essv16364638, essv16364586, essv16364876, essv16364606, essv16364141, essv16364290, essv16364407, essv16364216, essv16364164, essv16364845, essv16364255, essv16364921, essv16364172, essv16364657, essv16364504, essv16364205, essv16364463, essv16364285, essv16364378, essv16364790, essv16364828, essv16364193, essv16364387, essv16364874, essv16364781, essv16364656, essv16364584, essv16364747, essv16364260, essv16364665, essv16364914, essv16364614, essv16364698, essv16364676, essv16364494, essv16364694, essv16364862, essv16364577, essv16364394, essv16364751, essv16364561, essv16364704, essv16364601, essv16364144, essv16364653, essv16364392, essv16364499, essv16364249, essv16364805, essv16364922, essv16364308, essv16364534, essv16364857, essv16364947, essv16364399, essv16364834, essv16364320, essv16364486, essv16364832, essv16364408, essv16364898, essv16364360, essv16364145, essv16364721, essv16364677, essv16364244, essv16364469, essv16364869, essv16364513, essv16364217, essv16364675, essv16364564, essv16364858, essv16364627, essv16364457, essv16364576, essv16364619, essv16364294, essv16364923, essv16364746, essv16364518, essv16364375, essv16364907, essv16364692, essv16364802, essv16364823, essv16364543, essv16364776, essv16364446, essv16364234, essv16364163, essv16364450, essv16364474, essv16364214, essv16364792, essv16364791, essv16364551, essv16364343, essv16364312, essv16364865, essv16364936, essv16364288, essv16364411, essv16364200, essv16364210, essv16364358, essv16364958, essv16364363, essv16364310, essv16364332, essv16364189, essv16364549, essv16364896, essv16364186, essv16364855, essv16364314, essv16364425, essv16364931, essv16364918, essv16364815, essv16364740, essv16364527, essv16364712, essv16364532, essv16364207, essv16364338, essv16364910, essv16364881, essv16364421, essv16364771, essv16364162, essv16364289, essv16364864, essv16364648, essv16364323, essv16364511, essv16364613, essv16364797, essv16364337, essv16364702, essv16364890, essv16364844, essv16364250, essv16364620, essv16364381, essv16364951, essv16364277, essv16364235, essv16364287, essv16364142, essv16364695, essv16364893, essv16364763, essv16364812, essv16364437, essv16364593, essv16364596, essv16364376, essv16364722, essv16364415, essv16364608, essv16364473, essv16364405, essv16364334, essv16364835, essv16364490, essv16364440, essv16364843, essv16364196, essv16364361, essv16364707, essv16364526, essv16364525, essv16364563, essv16364773, essv16364304, essv16364946, essv16364342, essv16364413, essv16364880, essv16364768, essv16364840, essv16364194, essv16364281, essv16364667, essv16364580, essv16364264, essv16364507, essv16364701, essv16364284, essv16364305, essv16364401, essv16364629, essv16364853, essv16364359, essv16364842, essv16364240, essv16364878, essv16364891, essv16364770, essv16364749, essv16364863, essv16364531, essv16364555, essv16364631, essv16364685, essv16364571, essv16364497, essv16364459, essv16364764, essv16364736, essv16364436, essv16364943, essv16364160, essv16364957, essv16364766, essv16364830, essv16364861, essv16364514, essv16364213, essv16364354, essv16364245, essv16364673, essv16364388, essv16364731, essv16364779, essv16364500, essv16364603, essv16364311, essv16364873, essv16364530, essv16364560, essv16364699, essv16364268, essv16364750, essv16364152, essv16364368, essv16364952, essv16364489, essv16364502, essv16364817, essv16364181, essv16364640, essv16364559, essv16364157, essv16364236, essv16364934, essv16364423, essv16364737, essv16364465, essv16364188, essv16364683, essv16364501, essv16364258, essv16364509, essv16364573, essv16364953, essv16364295, essv16364839, essv16364647, essv16364477, essv16364636, essv16364663, essv16364297, essv16364688, essv16364523, essv16364851, essv16364602, essv16364728, essv16364347, essv16364550, essv16364806, essv16364742, essv16364341, essv16364955, essv16364422, essv16364903, essv16364618, essv16364476, essv16364582, essv16364462, essv16364716, essv16364714, essv16364275, essv16364718, essv16364919, essv16364416, essv16364262, essv16364867, essv16364149, essv16364546, essv16364396, essv16364339, essv16364510, essv16364398, essv16364892, essv16364226, essv16364793, essv16364325, essv16364420, essv16364371, essv16364481, essv16364700, essv16364847, essv16364192, essv16364349, essv16364621, essv16364424, essv16364322, essv16364468, essv16364512, essv16364727, essv16364195, essv16364920, essv16364276, essv16364836, essv16364429, essv16364585, essv16364760, essv16364850, essv16364734, essv16364491, essv16364355, essv16364854, essv16364932, essv16364367, essv16364148, essv16364166, essv16364237, essv16364658, essv16364911, essv16364263, essv16364784, essv16364626, essv16364544, essv16364419, essv16364641, essv16364942, essv16364156, essv16364826, essv16364807, essv16364180, essv16364426, essv16364684, essv16364933, essv16364848, essv16364365, essv16364521, essv16364609, essv16364588, essv16364950, essv16364384, essv16364610, essv16364173, essv16364345, essv16364674, essv16364178, essv16364711, essv16364256, essv16364485, essv16364520, essv16364198, essv16364443, essv16364938, essv16364605, essv16364369, essv16364822, essv16364177, essv16364800, essv16364296, essv16364875, essv16364595, essv16364414, essv16364536, essv16364799, essv16364442, essv16364810, essv16364383, essv16364803, essv16364829, essv16364735, essv16364506, essv16364508, essv16364687, essv16364412, essv16364693, essv16364309, essv16364316, essv16364566, essv16364651, essv16364202, essv16364897, essv16364400, essv16364208, essv16364273, essv16364570, essv16364168, essv16364625, essv16364327, essv16364191, essv16364678, essv16364759, essv16364505, essv16364649, essv16364852, essv16364703, essv16364882, essv16364466, essv16364496, essv16364182, essv16364452, essv16364190, essv16364351, essv16364517, essv16364439, essv16364535, essv16364151, essv16364741, essv16364827, essv16364259, essv16364886, essv16364167, essv16364175, essv16364406, essv16364654, essv16364279, essv16364804, essv16364227, essv16364724, essv16364464, essv16364611, essv16364146, essv16364336, essv16364786, essv16364540, essv16364467, essv16364659, essv16364661, essv16364458, essv16364206, essv16364624, essv16364482, essv16364794, essv16364906, essv16364274, essv16364795, essv16364253, essv16364242, essv16364201, essv16364796, essv16364272, essv16364356, essv16364370, essv16364209, essv16364143, essv16364303, essv16364306, essv16364545, essv16364389, essv16364720, essv16364269, essv16364725, essv16364691, essv16364299, essv16364780, essv16364498, essv16364664, essv16364895, essv16364587, essv16364652, essv16364444, essv16364239, essv16364430, essv16364373, essv16364889, essv16364187, essv16364417, essv16364460, essv16364877, essv16364483, essv16364524, essv16364954, essv16364680, essv16364382, essv16364241, essv16364224, essv16364709, essv16364754, essv16364645, essv16364846, essv16364331, essv16364556, essv16364185, essv16364215, essv16364183, essv16364888, essv16364904, essv16364590, essv16364461, essv16364451, essv16364569, essv16364682, essv16364662, essv16364859, essv16364324, essv16364225, essv16364719, essv16364575, essv16364604, essv16364475, essv16364837, essv16364379, essv16364547, essv16364212, essv16364431, essv16364154, essv16364672, essv16364471, essv16364402, essv16364170, essv16364448, essv16364346, essv16364908, essv16364528, essv16364637, essv16364761, essv16364280, essv16364591, essv16364159, essv16364377, essv16364541, essv16364708, essv16364949, essv16364841, essv16364150, essv16364913, essv16364432, essv16364313, essv16364705, essv16364838, essv16364428, essv16364265, essv16364669, essv16364948, essv16364583, essv16364372, essv16364397, essv16364819, essv16364849, essv16364753, essv16364418, essv16364778, essv16364283, essv16364488, essv16364539, essv16364218, essv16364729, essv16364552, essv16364301, essv16364380, essv16364612, essv16364872, essv16364738, essv16364607, essv16364600, essv16364856, essv16364161, essv16364293, essv16364646, essv16364231, essv16364574, essv16364472, essv16364171, essv16364292, essv16364589, essv16364789, essv16364733, essv16364630, essv16364307, essv16364344, essv16364565, essv16364767, essv16364538, essv16364706, essv16364321, essv16364860, essv16364487, essv16364775, essv16364757, essv16364456, essv16364679, essv16364229, essv16364821, essv16364529, essv16364809, essv16364715, essv16364592, essv16364879, essv16364816, essv16364302, essv16364824, essv16364495, essv16364366, essv16364554, essv16364944, essv16364286, essv16364929, essv16364317, essv16364445, essv16364348, essv16364562, essv16364743, essv16364899, essv16364352, essv16364404, essv16364441, essv16364374, essv16364941, essv16364484, essv16364357, essv16364671, essv16364902, essv16364319, essv16364885, essv16364220, essv16364909, essv16364266, essv16364925, essv16364632, essv16364232, essv16364326, essv16364930, essv16364772, essv16364917, essv16364300, essv16364393, essv16364769, essv16364278, essv16364926, essv16364887, essv16364197, essv16364238, essv16364801, essv16364568, essv16364204, essv16364813, essv16364578, essv16364745, essv16364643, essv16364247, essv16364717, essv16364353, essv16364447, essv16364553, essv16364927, essv16364937, essv16364449, essv16364782, essv16364668, essv16364670, essv16364395, essv16364155, essv16364940, essv16364333, essv16364248, essv16364364, essv16364454, essv16364696, essv16364622, essv16364939, essv16364642, essv16364785, essv16364639, essv16364219, essv16364634, essv16364267, essv16364176, essv16364270, essv16364254, essv16364328, essv16364599, essv16364594, essv16364548, essv16364616, essv16364251, essv16364403, essv16364257, essv16364798, essv16364385, essv16364147, essv16364956, essv16364478, essv16364916, essv16364410, essv16364831, essv16364820, essv16364783, essv16364515, essv16364391, essv16364335, essv16364579, essv16364666, essv16364516, essv16364223, essv16364633, essv16364519, essv16364252, essv16364533, essv16364689, essv16364900, essv16364744, essv16364246, essv16364572, essv16364480, essv16364883, essv16364644, essv16364690, essv16364537, essv16364710, essv16364870, essv16364912, essv16364315, essv16364243, essv16364628, essv16364199, essv16364362, essv16364894, essv16364169, essv16364868, essv16364615, essv16364655, essv16364298, essv16364756, essv16364479, essv16364228, essv16364329, essv16364758, essv16364928, essv16364623, essv16364777, essv16364598, essv16364866, essv16364542, essv16364165, essv16364233, essv16364433, essv16364739, essv16364350, essv16364945, essv16364915, essv16364179, essv16364330, essv16364318, essv16364825, essv16364390, essv16364435, essv16364814, essv16364732
SamplesHG02879, HG00864, NA18870, HG03858, HG01440, NA20351, HG02330, HG03382, HG02736, HG03351, HG03729, HG01852, NA19081, NA21110, HG00551, HG01988, NA18523, HG01089, HG00705, NA20851, HG01444, HG02727, HG00464, NA19093, NA20544, HG02334, HG02896, HG01800, NA11918, HG02255, NA19223, HG01389, NA20296, HG00463, HG01403, HG03896, HG01325, HG01850, HG00189, HG01082, HG04229, HG03469, NA21124, HG03829, HG01915, HG04186, NA18865, HG01200, HG03920, HG00139, HG00739, HG03432, NA19144, NA21135, HG01167, HG04118, NA12058, HG00683, HG00334, HG02322, HG00404, HG00335, NA19257, NA19701, HG04020, HG03199, HG03796, HG02355, HG03378, HG03812, NA18950, HG02973, HG00290, HG03752, HG03558, HG00556, NA20856, HG02775, HG03461, NA21111, HG03193, NA11840, HG01312, HG03054, HG03484, NA19309, HG00259, NA19443, HG01048, HG03624, HG03636, NA18636, HG03770, NA19088, NA19429, HG02410, HG03793, NA18609, NA21119, HG03851, NA11843, NA11894, HG03603, HG00243, NA19457, HG00407, NA19086, HG03114, NA20847, HG00662, HG03895, NA19190, HG00306, HG00097, HG00267, HG00233, HG04025, HG03792, HG03922, NA20760, HG02541, HG00732, NA12778, NA12348, HG01766, HG03673, NA12275, NA18510, HG00099, HG02807, NA11892, HG02266, HG02511, NA18878, HG00740, HG02386, NA19001, HG03072, NA20542, HG02364, NA20766, NA18910, NA21092, NA19711, HG03713, HG02190, HG03132, NA21101, NA18619, HG02947, NA19921, NA20911, HG03009, NA19025, HG02070, HG02154, HG04019, HG03990, HG02230, HG03925, NA18631, HG03172, NA20289, HG03815, NA19818, NA21089, HG01802, HG03259, HG00238, NA20886, HG00142, NA20869, HG02256, NA18610, NA19752, NA20872, NA11829, NA19130, HG02642, HG03908, HG00119, HG01842, HG01985, NA19350, HG03515, NA20804, NA20806, HG04171, HG03907, HG02855, HG03991, NA19466, HG03095, NA18553, HG04107, HG00327, HG02839, HG03625, HG00323, HG02691, HG02715, HG04131, NA18964, NA19913, HG02477, HG03058, NA19445, NA19625, HG02793, HG03706, HG03785, HG00304, NA11930, NA21125, NA07037, HG01612, HG02398, NA20278, HG03985, HG01072, NA20868, HG04156, HG02023, HG01342, NA18612, HG03112, HG03693, NA19401, HG01506, HG00449, HG01849, NA20299, NA20802, HG03301, HG02979, NA18948, HG01847, HG03611, NA19317, HG01431, HG00117, HG02014, HG02048, HG03663, HG01492, HG04026, NA20905, NA20529, HG01685, HG02887, HG04183, HG02733, HG01491, HG02652, HG02944, HG01286, HG01704, HG01679, NA21098, HG01131, HG01771, NA19210, NA20900, HG03680, HG04216, NA20588, HG01188, HG01204, HG02790, NA12776, HG01461, HG01577, HG03750, HG02156, HG03548, NA20314, HG03538, HG03765, HG00366, NA11893, NA20895, NA18965, HG02323, HG04100, NA18488, NA19474, HG01871, NA19084, HG02778, HG03488, NA21120, NA20877, NA18873, HG00188, HG03687, NA19438, HG03756, HG01133, HG01521, HG01784, HG04076, HG04038, NA21106, HG00266, HG02836, NA19762, HG00115, HG00154, HG03690, HG00321, NA19914, NA20761, NA18912, HG01086, HG03470, NA18934, HG00179, HG03910, HG01456, HG02634, HG03235, NA21137, HG03672, NA19059, NA12282, NA20515, HG01618, HG01672, HG01028, HG03300, NA18957, HG02716, NA18960, HG00180, HG00332, HG02050, NA18563, NA18618, NA20908, HG02577, HG03867, NA12762, NA20783, HG00372, HG01047, HG00141, HG01815, HG03862, HG04194, HG00330, NA18638, HG03805, HG01396, HG02763, HG00150, HG03965, NA20765, NA20882, HG03871, HG00258, NA19256, HG01136, NA19773, HG03604, HG00637, NA18982, HG03864, NA20892, HG00403, NA18634, NA20589, HG00237, HG03971, HG04185, HG00133, NA18539, NA20773, NA21115, HG00114, NA12006, NA21099, HG00742, HG02283, HG03225, NA21122, HG00159, HG01948, HG02304, HG02840, HG03902, NA20901, HG02131, HG02442, HG02490, NA21143, HG00108, HG02325, NA18537, HG03190, NA19172, HG01705, HG03195, HG03998, HG00360, HG01308, NA18572, NA20536, HG01066, NA19375, NA20126, HG01989, HG00382, NA06985, HG00629, HG03753, NA18923, NA18486, HG01455, HG04070, HG03754, HG00560, HG01073, NA18558, HG00239, HG03931, HG00273, HG01967, HG04062, HG00282, HG03514, HG03974, HG00232, HG03740, HG03873, HG01699, HG00116, HG03518, NA20828, HG02771, HG02780, NA18613, HG00513, HG02502, HG01767, HG03978, NA19091, HG00729, NA18985, HG02395, HG02690, HG02085, HG03115, NA18945, NA20891, HG01149, HG02582, HG03175, NA18543, HG01259, HG01566, HG03363, NA18582, HG00595, HG02301, NA21126, HG00443, HG01393, NA20357, HG03875, HG01971, HG03499, HG03629, HG03745, NA18995, HG04047, NA20332, NA06984, HG01586, HG01673, HG03866, HG02134, HG03694, HG00138, HG00663, HG02604, HG03644, HG03913, NA20867, HG02075, HG03989, NA19741, HG00262, HG01303, NA18560, HG00409, HG01112, HG02186, NA19099, NA20509, HG03905, HG03476, NA18533, HG03240, NA11992, NA18946, NA19770, NA20846, HG01783, HG02465, HG02589, NA19327, NA21117, HG02891, NA18917, HG01593, HG01886, NA19399, NA20812, HG02678, NA19160, HG03607, HG03369, HG03809, HG02476, HG01746, NA20832, NA19095, HG01125, HG03449, HG00251, HG02522, HG03016, HG01791, HG03838, HG03850, HG03117, HG01522, NA19079, HG01479, NA06994, HG00143, HG01678, NA12760, HG03826, NA20772, NA19092, NA19468, HG02493, HG03730, HG04195, HG03490, NA19456, HG01602, HG01710, HG00136, HG02130, HG03824, NA20899, HG03950, NA07000, NA12775, NA20339, HG01067, HG00128, NA20863, HG01198, HG02282, HG02610, HG01607, HG03136, HG02725, NA20903, HG00309, HG00157, HG03160, HG03121, HG00252, HG02250, HG03900, NA07347, HG02810, HG03567, NA18616, NA20771, HG03668, NA19904, NA20527, HG01284, NA18534, NA20862, HG03784, HG01519, HG03762, HG03940, NA12342, HG00350, NA19114, HG03711, NA21114, HG00351, HG01859, HG03593, HG00171, HG03856, HG03741, NA20535, HG02223, NA20888, NA18545, NA19319, HG01197, HG00614, HG01051, HG02783, HG03133, HG01615, HG03419, HG02946, HG01174, NA20889, HG02884, HG00148, HG01537, HG02010, HG03298, HG01606, NA19379, HG01507, HG01762, HG02471, HG01708, HG02660, NA20897, HG01344, NA07051, NA19378, HG02817, HG04001, HG03491, HG04176, HG04180, HG01134, HG02613, HG04200, HG03714, NA20798, HG00737, HG03949, HG04140, NA12287, NA18628, NA18949, HG03803, HG03897, HG03836, HG01107, HG03955, NA19062, HG01550, NA20896, HG00242, HG02061, HG04206, HG02699, HG04075, HG01392, NA20764, HG00240, HG01248, NA18536, NA18622, HG01756, HG01398, HG01583, HG04153, HG00692, HG01694, HG03681, HG00121, HG03439, HG02385, HG03787, NA20127, HG02557, HG03052, HG03464, HG03130, HG02143, NA19075, HG00451, NA11995, HG03781, NA12777, NA21094, HG01247, HG01596, HG01747, HG03722, NA19042, NA21102, HG02737, HG03780, NA12751, HG00373, HG01242, NA19247, HG03169, NA19080, HG01600, NA18747, HG01465, HG02537, HG04141, HG02054, NA21128, HG03397, NA20348, NA18939, NA19384, HG03473, NA19027, NA20795, HG04158, NA19119, HG02623, HG01281, HG03934, HG01069, HG03366, HG00103, HG03800, NA20815, HG02087, NA20797, NA21093, HG03577, HG01512, HG01531, NA19141, HG01921, NA19777, HG01094, HG02484, HG01809, NA19729, HG01095, HG02128, HG03888, HG03589, NA18909, HG03772, HG03771, NA19747, HG03018, HG01390, HG03999, NA12878, NA19475, HG03123, HG03708, HG02408, HG02702, HG03258, HG03139, HG04177, HG03077, HG01951, HG03640, HG02682, HG00320, HG02728, NA12874, HG02315, HG02620, HG02813, HG02188, HG03720, NA19661, HG00107, HG02367, HG01354, HG01578, HG03689, HG03937, HG01372, HG01513, HG01515, HG01868, NA18647, NA12718, HG03698, HG00536, NA20874, HG01241, HG00743, HG02697, HG00100, HG03977, HG02025, HG02086, HG02546, HG03703, NA07056, NA20906, HG01064, NA21123, HG02284, HG03055, HG00736, HG02759, NA19060, HG01794, NA19023, HG02318, HG00707, NA06989, NA12340, NA18877
Known GenesDGCR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647259
Frequency
Sample Size2504
Observed Gain0
Observed Loss818
Observed Complex0
Frequencyn/a


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