A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600303



Internal ID6987347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40233428..40235419hg38UCSC Ensembl
Innerchr4:40233542..40235305hg38UCSC Ensembl
Outerchr4:40233314..40235533hg38UCSC Ensembl
chr4:40235048..40237039hg19UCSC Ensembl
Innerchr4:40235162..40236925hg19UCSC Ensembl
Outerchr4:40234934..40237153hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381992
hg191992
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11403995, essv11404248, essv11404059, essv11404268, essv11404462, essv11404224, essv11403942, essv11404380, essv11404571, essv11404036, essv11403997, essv11404335, essv11404081, essv11404034, essv11404529, essv11404369, essv11404607, essv11404302, essv11404594, essv11404547, essv11404595, essv11404516, essv11404400, essv11404174, essv11404189, essv11403974, essv11404308, essv11404134, essv11403901, essv11403876, essv11404624, essv11404096, essv11404095, essv11404592, essv11404132, essv11403982, essv11403959, essv11403934, essv11404279, essv11404539, essv11403950, essv11404051, essv11404040, essv11404431, essv11404161, essv11404128, essv11404217, essv11404456, essv11403861, essv11404537, essv11404526, essv11404473, essv11404501, essv11404455, essv11404092, essv11404319, essv11404233, essv11404406, essv11403922, essv11404290, essv11404156, essv11404153, essv11404554, essv11404126, essv11404578, essv11404028, essv11404514, essv11404507, essv11404301, essv11404004, essv11403991, essv11404421, essv11404392, essv11404606, essv11404336, essv11404274, essv11404216, essv11404426, essv11404213, essv11404183, essv11404386, essv11404307, essv11404175, essv11404497, essv11404362, essv11404401, essv11404113, essv11404579, essv11404519, essv11404411, essv11404328, essv11404517, essv11404565, essv11404551, essv11404358, essv11404244, essv11404080, essv11403867, essv11404378, essv11404239, essv11404061, essv11404618, essv11404173, essv11404467, essv11403928, essv11404557, essv11404418, essv11404370, essv11404246, essv11404162, essv11404453, essv11404572, essv11404241, essv11404099, essv11404082, essv11404104, essv11404469, essv11404454, essv11404091, essv11404479, essv11404314, essv11404427, essv11404318, essv11404147, essv11403886, essv11404042, essv11403872, essv11404206, essv11404002, essv11404076, essv11404508, essv11404503, essv11404214, essv11404000, essv11403915, essv11404232, essv11403953, essv11403896, essv11404357, essv11404540, essv11404333, essv11403895, essv11404443, essv11404495, essv11403961, essv11404022, essv11404491, essv11403989, essv11404271, essv11404159, essv11404278, essv11404568, essv11404127, essv11403914, essv11404055, essv11404035, essv11404434, essv11404180, essv11404264, essv11403936, essv11404340, essv11404375, essv11404267, essv11404084, essv11404016, essv11403870, essv11404266, essv11404165, essv11404493, essv11404410, essv11404580, essv11404258, essv11404125, essv11403994, essv11404518, essv11404622, essv11404482, essv11404413, essv11404347, essv11404218, essv11404065, essv11404458, essv11404247, essv11404270, essv11404027, essv11404160, essv11404593, essv11404492, essv11404222, essv11404182, essv11404563, essv11404086, essv11403908, essv11404177, essv11404107, essv11404355, essv11404118, essv11403937, essv11404504, essv11403933, essv11404449, essv11403917, essv11403975, essv11404316, essv11404108, essv11404377, essv11404069, essv11404384, essv11404573, essv11404323, essv11404204, essv11404109, essv11404461, essv11404632, essv11404611, essv11404048, essv11404087, essv11403966, essv11404168, essv11404496, essv11404586, essv11403996, essv11404122, essv11404073, essv11404417, essv11403973, essv11404181, essv11404385, essv11404304, essv11404447, essv11404350, essv11404242, essv11404023, essv11403890, essv11404317, essv11404010, essv11404142, essv11404368, essv11404251, essv11404006, essv11404409, essv11404387, essv11403877, essv11403999, essv11403909, essv11403985, essv11404488, essv11404114, essv11404078, essv11403892, essv11404215, essv11404199, essv11403903, essv11404559, essv11404383, essv11404361, essv11404103, essv11403993, essv11403891, essv11404436, essv11404390, essv11403951, essv11404634, essv11404397, essv11404391, essv11404331, essv11404150, essv11404615, essv11404116, essv11404398, essv11404428, essv11404570, essv11404293, essv11404548, essv11404205, essv11404474, essv11404556, essv11403963, essv11404110, essv11403900, essv11404037, essv11404451, essv11404321, essv11404433, essv11404112, essv11404235, essv11403940, essv11403879, essv11404348, essv11404561, essv11403923, essv11403919, essv11404170, essv11403913, essv11404536, essv11404229, essv11404057, essv11404330, essv11404288, essv11404191, essv11404200, essv11404190, essv11404009, essv11404135, essv11404601, essv11404332, essv11404020, essv11404054, essv11404299, essv11404041, essv11404187, essv11404448, essv11404202, essv11404372, essv11404511, essv11404365, essv11404322, essv11404152, essv11403882, essv11404176, essv11404305, essv11404245, essv11404201, essv11404230, essv11403992, essv11404602, essv11404585, essv11403958, essv11403927, essv11404008, essv11404093, essv11404583, essv11404192, essv11404194, essv11404237, essv11404123, essv11403902, essv11403968, essv11404633, essv11404403, essv11404005, essv11404490, essv11404628, essv11404284, essv11403979, essv11404018, essv11404480, essv11403873, essv11403935, essv11403894, essv11404374, essv11404303, essv11404238, essv11404070, essv11404208, essv11404038, essv11404143, essv11404588, essv11403946, essv11404505, essv11404338, essv11404294, essv11404617, essv11403956, essv11404295, essv11404250, essv11404185, essv11404604, essv11404620, essv11403945, essv11403932, essv11404072, essv11404596, essv11404291, essv11403905, essv11404506, essv11404275, essv11404553, essv11404140, essv11404543, essv11404524, essv11404223, essv11404498, essv11404376, essv11404137, essv11404630, essv11404262, essv11404120, essv11404115, essv11404494, essv11404346, essv11404379, essv11404225, essv11403970, essv11404610, essv11403986, essv11404600, essv11404471, essv11403918, essv11404121, essv11404351, essv11404098, essv11404046, essv11403984, essv11404515, essv11404197, essv11404066, essv11404388, essv11404277, essv11404541, essv11403943, essv11404276, essv11404119, essv11404520, essv11404049, essv11404487, essv11404012, essv11403962, essv11404141, essv11404281, essv11404352, essv11403883, essv11404577, essv11404360, essv11404060, essv11403988, essv11404221, essv11404219, essv11403954, essv11403939, essv11404450, essv11404203, essv11404552, essv11404502, essv11404527, essv11404444, essv11404472, essv11404562, essv11404525, essv11404280, essv11404285, essv11404545, essv11404124, essv11404574, essv11404310, essv11404043, essv11404339, essv11403944, essv11403952, essv11404212, essv11404538, essv11404364, essv11404311, essv11404026, essv11404373, essv11404088, essv11404011, essv11403865, essv11404531, essv11404445, essv11403910, essv11404439, essv11404102, essv11404412, essv11404320, essv11404097, essv11404169, essv11404523, essv11404533, essv11404629, essv11404405, essv11403955, essv11404207, essv11404017, essv11404030, essv11404282, essv11403930, essv11404371, essv11404564, essv11404265, essv11404635, essv11404090, essv11404324, essv11404167, essv11404133, essv11404393, essv11404329, essv11404075, essv11403888, essv11404590, essv11404528, essv11403967, essv11404619, essv11404366, essv11404296, essv11404029, essv11404395, essv11404158, essv11404609, essv11404424, essv11404349, essv11404297, essv11404085, essv11404032, essv11404591, essv11404499, essv11404003, essv11404532, essv11403874, essv11404437, essv11404513, essv11404466, essv11404033, essv11404327, essv11404259, essv11403981, essv11403948, essv11404560, essv11404228, essv11404342, essv11404286, essv11404261, essv11404019, essv11404546, essv11403871, essv11404452, essv11404195, essv11404171, essv11404101, essv11404226, essv11404015, essv11403964, essv11404425, essv11404389, essv11404354, essv11404209, essv11404172, essv11403983, essv11403887, essv11404353, essv11403866, essv11404549, essv11404001, essv11404510, essv11404287, essv11404186, essv11404558, essv11404111, essv11403898, essv11404535, essv11404062, essv11404534, essv11404483, essv11404021, essv11404083, essv11403977, essv11404312, essv11404166, essv11404163, essv11404476, essv11404243, essv11404053, essv11403912, essv11403920, essv11404145, essv11404067, essv11404025, essv11404441, essv11404597, essv11404616, essv11404031, essv11403899, essv11403938, essv11404576, essv11404146, essv11404343, essv11404344, essv11404325, essv11403931, essv11404151, essv11403916, essv11404326, essv11403881, essv11404582, essv11404475, essv11404612, essv11404236, essv11404381, essv11404024, essv11403998, essv11403947, essv11404432, essv11403884, essv11404402, essv11404442, essv11404188, essv11404179, essv11403969, essv11403929, essv11403911, essv11404584, essv11404415, essv11403926, essv11404105, essv11404416, essv11403960, essv11403906, essv11404459, essv11404625, essv11404047, essv11404257, essv11404530, essv11404227, essv11404363, essv11404345, essv11404269, essv11404058, essv11403987, essv11404100, essv11404068, essv11403990, essv11404636, essv11404255, essv11403921, essv11403878, essv11404315, essv11404240, essv11403885, essv11404252, essv11404521, essv11404249, essv11404468, essv11404131, essv11404408, essv11404420, essv11404470, essv11404129, essv11404130, essv11404220, essv11404567, essv11404136, essv11404193, essv11404157, essv11404306, essv11404231, essv11403869, essv11404149, essv11404623, essv11403904, essv11404144, essv11404272, essv11404234, essv11404512, essv11404481, essv11404414, essv11404117, essv11404438, essv11404138, essv11404621, essv11404484, essv11404148, essv11404089, essv11404598, essv11404575, essv11404399, essv11404626, essv11404614, essv11404509, essv11403897, essv11403965, essv11404407, essv11403980, essv11404396, essv11404056, essv11404613, essv11404292, essv11404045, essv11404569, essv11404263, essv11404210, essv11404007, essv11404050, essv11404485, essv11404394, essv11404631, essv11404178, essv11404074, essv11404605, essv11404063, essv11403893, essv11404500, essv11404044, essv11404464, essv11404581, essv11403863, essv11404106, essv11404419, essv11404298, essv11404253, essv11404155, essv11404404, essv11404477, essv11404599, essv11404465, essv11404139, essv11404283, essv11404039, essv11403972, essv11404064, essv11403941, essv11404463, essv11404256, essv11404300, essv11404211, essv11404627, essv11404550, essv11404013, essv11403976, essv11403971, essv11403864, essv11404440, essv11404052, essv11403889, essv11404542, essv11404478, essv11403924, essv11403880, essv11404071, essv11403907, essv11404446, essv11404544, essv11404367, essv11404566, essv11404489, essv11404337, essv11404603, essv11404422, essv11404356, essv11404254, essv11404198, essv11404154, essv11403862, essv11404423, essv11404309, essv11404196, essv11404486, essv11403949, essv11404260, essv11404435, essv11404522, essv11404460, essv11404382, essv11404334, essv11404587, essv11404457, essv11404429, essv11403868, essv11404608, essv11403978, essv11404289, essv11404079, essv11404555, essv11404589, essv11404184, essv11404077, essv11403957, essv11404164, essv11403875, essv11404430, essv11404313, essv11404273, essv11404359, essv11404014, essv11403925, essv11404341, essv11404094
SamplesHG01695, NA12776, HG03886, HG03196, HG01608, HG01986, HG01985, NA18502, NA19028, HG01965, NA20891, NA18647, HG01885, HG04060, HG03517, HG03247, NA11920, HG01326, NA11931, HG03241, HG02661, HG02231, HG03449, HG02836, HG00233, NA12751, HG03941, HG03616, HG01486, NA18878, HG02624, HG03295, NA21137, NA19377, HG02215, HG01518, NA20863, HG02888, HG01704, HG03679, NA20359, HG02769, NA20894, HG03837, NA19171, HG01325, NA19379, HG00122, NA19315, NA20589, HG01676, NA21130, HG02840, NA18916, NA18574, NA07048, HG01083, HG04070, HG01365, HG03040, NA19384, NA20291, HG04033, HG00281, HG00130, HG04183, HG02561, HG01519, NA18868, HG03212, HG02389, NA19238, HG03045, NA19024, HG03947, NA19036, NA19239, HG01967, HG02879, HG02943, NA20904, NA20535, NA12760, HG00731, HG03061, HG02793, HG03718, HG03907, NA19175, HG03786, NA20521, HG02449, HG01879, HG02731, HG02144, HG03771, HG03775, NA12718, NA20875, NA20519, HG04177, NA18981, HG01630, NA20876, NA18548, NA18907, HG01047, NA20903, NA20901, NA18532, NA06989, HG04017, HG01130, HG02724, HG02666, NA19452, HG03006, HG03752, HG00099, HG02219, NA19395, HG04118, HG01988, HG00126, NA19625, HG01625, HG02675, HG04200, HG01257, HG03720, HG04025, HG03598, NA19440, HG02667, HG02557, NA18517, NA21144, HG04026, NA19712, NA19434, HG03920, HG03117, NA19331, NA20520, NA18865, NA21095, NA19360, HG03703, NA20888, NA20906, NA19117, HG02971, HG03157, HG01912, NA19223, HG03313, HG03279, HG02768, NA18873, HG01631, NA19770, NA18876, NA20826, HG04171, HG03470, HG03401, NA19121, HG02947, NA19129, HG00628, HG02851, NA20827, HG03815, HG02643, HG01509, NA19429, NA19431, HG03271, HG02760, HG03690, HG00096, HG02614, HG01060, HG02339, NA19700, NA18924, HG03965, NA19466, HG02702, NA20899, HG01079, HG02648, NA19704, HG03589, HG03015, HG02852, HG01389, NA18877, HG04094, NA19092, HG03280, NA12004, NA20346, HG00150, HG02734, HG03577, NA19190, NA12400, NA18962, NA12413, NA12341, HG01500, HG01503, HG03086, HG03099, HG03499, HG02541, HG03765, HG02687, HG02620, NA19916, HG02854, HG03246, HG02655, HG01354, HG03629, HG03762, HG01110, NA20541, NA19038, HG03830, HG03851, HG03209, NA12282, HG00277, HG02703, HG03556, HG02315, HG03986, HG02003, NA20896, NA20340, HG01767, NA19471, HG02471, HG03352, NA19026, NA19002, HG03744, NA19189, HG02946, NA20764, HG03750, HG03055, HG03832, HG03369, NA21122, NA12748, HG03169, HG02819, NA20818, HG03709, HG03780, HG03120, NA19247, HG03160, HG00183, NA19082, NA19707, NA20524, HG03787, NA12342, HG02334, HG02697, HG02582, HG02236, NA19462, NA20809, NA20536, NA18991, HG01938, HG02554, NA19982, HG02450, HG02953, HG04035, NA18910, HG03756, HG01880, HG04180, HG02976, HG01948, HG03294, HG02789, HG03123, HG01777, HG01392, HG03563, HG02817, NA20859, HG02494, NA18499, HG03397, HG02604, HG02008, HG01504, NA19031, HG01383, HG01241, HG02283, HG03571, NA20282, NA19225, HG01403, NA20828, HG00141, HG03991, HG02586, HG03109, HG02399, HG01589, NA21143, NA19308, HG02613, HG03028, HG04219, HG02684, NA19108, NA12775, HG00742, HG04239, HG00375, HG01253, HG00136, HG03689, NA07051, HG02314, HG01951, NA19310, HG00319, NA20803, HG03557, HG03419, HG02814, HG03681, NA21125, NA19818, NA19376, HG03432, NA19248, HG02238, NA19472, HG02646, HG02938, HG01783, NA12830, HG04209, HG03998, HG03538, HG01883, HG00252, NA07056, HG02861, NA18505, HG04161, HG03890, HG02808, HG02343, HG01191, NA19153, NA20511, NA19394, NA18745, NA12383, HG04210, NA20882, HG02658, HG03484, HG02628, NA19703, HG03121, HG02481, NA19909, HG00102, HG01624, NA21127, NA19204, NA18861, NA18508, NA12273, HG02026, NA20514, HG04158, NA20878, HG03300, HG01066, HG03115, HG02012, HG03229, NA20517, HG00097, HG03999, HG04156, HG03009, HG00271, NA19107, NA18519, HG02621, HG00272, HG04038, HG03016, HG03452, HG01351, HG03808, HG02952, HG03091, NA20774, NA18923, HG02266, HG02860, HG03342, HG01761, HG03578, HG01372, HG00185, HG02816, HG02603, NA19130, HG02981, NA11930, NA20539, HG03887, HG03619, HG02143, NA12275, NA12156, HG00325, NA12044, NA11994, HG03888, HG03691, HG01525, NA20889, HG02545, HG01048, HG01058, NA20355, NA20127, HG03394, HG02477, NA21105, HG04075, HG03784, HG02716, HG02820, HG03861, NA19091, HG03363, HG00380, HG01670, NA19006, HG00332, NA19403, NA21119, NA18933, NA19984, HG00101, HG01882, HG00368, HG00132, NA20314, HG03457, HG00556, NA20862, HG00275, HG01077, HG03081, HG02508, HG01149, HG00551, HG01889, HG04235, HG03967, HG00284, HG03472, NA20867, NA11919, HG02577, HG03802, HG03388, HG03631, NA20856, HG03643, HG01593, HG02881, HG01101, HG03953, NA19099, HG02783, HG03914, HG03046, NA18963, HG03672, HG01680, HG04159, HG02594, NA18858, HG02568, NA18974, HG02722, HG02660, HG01148, HG02330, HG00155, NA21117, HG04227, HG04006, NA19149, NA20276, HG02010, HG01678, NA20815, HG02790, NA12272, HG01551, HG01939, NA21123, NA20790, NA20530, NA20362, NA20902, HG04099, HG02941, HG02317, NA19783, HG01489, HG03779, HG04080, NA18501, HG03112, HG02095, HG04140, HG03642, NA20847, HG03977, HG04014, HG03733, HG00342, NA19468, HG03060, NA20510, NA19185, NA20758, NA19080, HG03925, NA19711, HG02681, NA19900, HG02763, NA19430, NA11892, NA19316, NA19312, HG02778, HG02805, NA19463, HG04153, HG03303, HG03439, NA20754, NA19346, NA19214, HG03166, NA21120, HG01516, HG04198, HG03514, HG03096, NA21110, HG03366, NA19222, HG03857, NA21097, HG02652, NA21089, HG01438, HG03548, HG02298, HG01773, NA19914, HG03237, HG01860, HG03767, HG03738, HG02318, NA20531, HG03607, NA18917, HG04002, HG02891, HG00640, HG00367, NA18545, HG01531, HG03190, NA19393, NA20805, HG03100, HG01456, HG03297, HG03139, HG01632, HG02895, HG01140, HG00327, NA20846, HG03095, HG03074, HG00622, NA19792, HG03464, HG02811, HG01682, HG02810, HG04022, HG03873, NA18619, HG03370, HG03905, NA19088, HG02922, HG03079, HG02489, HG02281, HG03803, HG03897, NA19383, NA18874, HG03268, NA06984, HG02573, HG01495, HG02461, HG03788, HG01281, HG01369, HG03195, NA19385, HG03696, NA20869, HG00309, NA20811, NA19901, HG04185, HG03225, NA18864, HG03267, HG03058, HG02715, HG03048, NA21106, HG00133, HG02977, HG03785, NA19210, HG03054, HG01187, HG02233, HG03007, HG01104, NA19152, HG03547, HG01162, HG04107, HG03291, HG02108, HG02322, NA20895, NA18516, NA18915, HG03428, HG04019, HG02968, HG03124, HG02757, NA18757, HG01615, HG01311, HG00273, HG03871, NA20299, HG04054, HG03476, NA21141, NA11894, NA20538, NA18856, HG02649, NA19113, HG02884, HG00117, HG03745, NA19338, HG04152, HG01890, HG03755, HG03354, NA18945, HG02484, HG01530, NA18546, HG02813, NA20821, NA21113, HG03778, HG03790, NA18909, HG03240, HG01190, NA19321, HG00366, HG02682, HG00357, HG01915, NA19435, HG02923, NA19773, NA19380, NA19144, NA20785, HG01977, HG03850, NA19334, HG03488, HG01494, HG03846, NA20516, NA12874, NA07037, HG03108, NA06986, HG04141, NA19475, HG03084, NA20357, HG01395, HG04023, HG03565, HG00111, HG02974, HG03896, HG02970, HG02230, HG01556, HG00656, NA20334, HG02053, HG03022, HG02462, HG03916, HG00234, NA19213, NA20528, HG02052, HG02051, HG01251, HG03162, HG02028, NA18488, HG01082, HG04056, HG03376, NA07000, HG02284, NA18522, HG03129
Known GenesRHOH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600303
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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