A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643415



Internal ID7030178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1950306..1951854hg38UCSC Ensembl
Innerchr19:1950329..1951832hg38UCSC Ensembl
Outerchr19:1950284..1951877hg38UCSC Ensembl
chr19:1950305..1951853hg19UCSC Ensembl
Innerchr19:1950328..1951831hg19UCSC Ensembl
Outerchr19:1950283..1951876hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381549
hg191549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15968728, essv15968277, essv15968370, essv15968243, essv15968209, essv15968814, essv15968768, essv15968717, essv15968777, essv15968598, essv15968427, essv15968549, essv15968289, essv15968205, essv15968291, essv15968642, essv15968623, essv15968496, essv15968467, essv15968286, essv15968662, essv15968174, essv15968833, essv15968247, essv15968206, essv15968819, essv15968211, essv15968420, essv15968352, essv15968875, essv15968584, essv15968405, essv15968602, essv15968497, essv15968463, essv15968329, essv15968825, essv15968756, essv15968845, essv15968262, essv15968356, essv15968620, essv15968551, essv15968502, essv15968278, essv15968641, essv15968699, essv15968445, essv15968488, essv15968837, essv15968227, essv15968659, essv15968555, essv15968273, essv15968362, essv15968358, essv15968863, essv15968214, essv15968523, essv15968545, essv15968232, essv15968360, essv15968339, essv15968235, essv15968490, essv15968454, essv15968296, essv15968787, essv15968568, essv15968565, essv15968688, essv15968363, essv15968842, essv15968673, essv15968226, essv15968604, essv15968560, essv15968253, essv15968558, essv15968434, essv15968793, essv15968687, essv15968547, essv15968190, essv15968237, essv15968851, essv15968495, essv15968815, essv15968321, essv15968830, essv15968778, essv15968694, essv15968257, essv15968823, essv15968557, essv15968479, essv15968203, essv15968684, essv15968608, essv15968594, essv15968697, essv15968332, essv15968876, essv15968812, essv15968679, essv15968181, essv15968704, essv15968325, essv15968790, essv15968334, essv15968393, essv15968859, essv15968430, essv15968414, essv15968195, essv15968436, essv15968657, essv15968649, essv15968810, essv15968762, essv15968637, essv15968367, essv15968786, essv15968731, essv15968343, essv15968515, essv15968484, essv15968312, essv15968309, essv15968683, essv15968471, essv15968850, essv15968489, essv15968831, essv15968746, essv15968499, essv15968200, essv15968517, essv15968808, essv15968774, essv15968738, essv15968244, essv15968618, essv15968651, essv15968293, essv15968202, essv15968519, essv15968476, essv15968864, essv15968692, essv15968421, essv15968696, essv15968522, essv15968550, essv15968593, essv15968742, essv15968534, essv15968193, essv15968627, essv15968828, essv15968714, essv15968631, essv15968304, essv15968482, essv15968450, essv15968392, essv15968514, essv15968716, essv15968792, essv15968613, essv15968729, essv15968410, essv15968857, essv15968175, essv15968369, essv15968311, essv15968266, essv15968771, essv15968460, essv15968719, essv15968805, essv15968749, essv15968691, essv15968690, essv15968508, essv15968180, essv15968432, essv15968634, essv15968419, essv15968867, essv15968241, essv15968444, essv15968245, essv15968700, essv15968379, essv15968773, essv15968629, essv15968396, essv15968674, essv15968645, essv15968574, essv15968425, essv15968720, essv15968686, essv15968769, essv15968395, essv15968295, essv15968417, essv15968743, essv15968860, essv15968222, essv15968689, essv15968601, essv15968283, essv15968734, essv15968398, essv15968466, essv15968492, essv15968824, essv15968418, essv15968374, essv15968433, essv15968827, essv15968240, essv15968400, essv15968650, essv15968530, essv15968375, essv15968520, essv15968784, essv15968569, essv15968603, essv15968537, essv15968533, essv15968591, essv15968297, essv15968254, essv15968215, essv15968485, essv15968274, essv15968518, essv15968772, essv15968779, essv15968725, essv15968426, essv15968712, essv15968242, essv15968760, essv15968796, essv15968349, essv15968868, essv15968727, essv15968619, essv15968439, essv15968199, essv15968394, essv15968359, essv15968652, essv15968626, essv15968292, essv15968182, essv15968865, essv15968282, essv15968464, essv15968335, essv15968739, essv15968207, essv15968615, essv15968770, essv15968315, essv15968491, essv15968646, essv15968372, essv15968698, essv15968219, essv15968705, essv15968302, essv15968855, essv15968525, essv15968711, essv15968801, essv15968526, essv15968708, essv15968457, essv15968509, essv15968562, essv15968210, essv15968201, essv15968212, essv15968817, essv15968441, essv15968204, essv15968723, essv15968196, essv15968458, essv15968556, essv15968423, essv15968324, essv15968561, essv15968669, essv15968453, essv15968481, essv15968344, essv15968632, essv15968338, essv15968583, essv15968448, essv15968217, essv15968843, essv15968300, essv15968225, essv15968858, essv15968766, essv15968391, essv15968529, essv15968290, essv15968275, essv15968732, essv15968248, essv15968755, essv15968780, essv15968701, essv15968465, essv15968839, essv15968403, essv15968676, essv15968431, essv15968516, essv15968513, essv15968406, essv15968880, essv15968709, essv15968849, essv15968473, essv15968281, essv15968656, essv15968655, essv15968250, essv15968399, essv15968566, essv15968422, essv15968285, essv15968345, essv15968635, essv15968579, essv15968383, essv15968305, essv15968298, essv15968303, essv15968710, essv15968382, essv15968390, essv15968622, essv15968189, essv15968726, essv15968592, essv15968577, essv15968380, essv15968799, essv15968751, essv15968504, essv15968748, essv15968559, essv15968740, essv15968588, essv15968307, essv15968475, essv15968617, essv15968836, essv15968818, essv15968388, essv15968365, essv15968500, essv15968213, essv15968322, essv15968693, essv15968366, essv15968539, essv15968878, essv15968336, essv15968653, essv15968347, essv15968548, essv15968455, essv15968532, essv15968198, essv15968256, essv15968599, essv15968624, essv15968397, essv15968706, essv15968580, essv15968404, essv15968785, essv15968438, essv15968736, essv15968330, essv15968636, essv15968191, essv15968231, essv15968639, essv15968543, essv15968644, essv15968287, essv15968782, essv15968306, essv15968776, essv15968747, essv15968750, essv15968575, essv15968666, essv15968449, essv15968320, essv15968178, essv15968353, essv15968276, essv15968187, essv15968703, essv15968269, essv15968408, essv15968364, essv15968675, essv15968176, essv15968401, essv15968230, essv15968328, essv15968246, essv15968582, essv15968788, essv15968346, essv15968271, essv15968494, essv15968402, essv15968381, essv15968606, essv15968192, essv15968838, essv15968220, essv15968355, essv15968813, essv15968733, essv15968486, essv15968752, essv15968848, essv15968512, essv15968376, essv15968279, essv15968881, essv15968757, essv15968573, essv15968576, essv15968216, essv15968308, essv15968535, essv15968229, essv15968874, essv15968872, essv15968440, essv15968832, essv15968806, essv15968542, essv15968446, essv15968553, essv15968260, essv15968194, essv15968873, essv15968789, essv15968567, essv15968413, essv15968238, essv15968713, essv15968803, essv15968314, essv15968861, essv15968386, essv15968468, essv15968663, essv15968384, essv15968350, essv15968183, essv15968385, essv15968531, essv15968616, essv15968270, essv15968351, essv15968570, essv15968546, essv15968411, essv15968255, essv15968607, essv15968840, essv15968507, essv15968667, essv15968852, essv15968267, essv15968597, essv15968184, essv15968809, essv15968197, essv15968416, essv15968730, essv15968342, essv15968741, essv15968802, essv15968581, essv15968807, essv15968765, essv15968638, essv15968361, essv15968648, essv15968702, essv15968820, essv15968341, essv15968800, essv15968251, essv15968826, essv15968715, essv15968721, essv15968681, essv15968218, essv15968538, essv15968672, essv15968630, essv15968259, essv15968435, essv15968409, essv15968754, essv15968564, essv15968326, essv15968459, essv15968462, essv15968239, essv15968493, essv15968763, essv15968722, essv15968461, essv15968224, essv15968313, essv15968610, essv15968816, essv15968501, essv15968621, essv15968797, essv15968586, essv15968272, essv15968853, essv15968527, essv15968821, essv15968846, essv15968783, essv15968841, essv15968415, essv15968412, essv15968318, essv15968625, essv15968759, essv15968177, essv15968643, essv15968665, essv15968424, essv15968870, essv15968208, essv15968678, essv15968804, essv15968737, essv15968310, essv15968264, essv15968185, essv15968521, essv15968811, essv15968316, essv15968234, essv15968563, essv15968541, essv15968862, essv15968505, essv15968877, essv15968761, essv15968614, essv15968284, essv15968661, essv15968829, essv15968173, essv15968483, essv15968348, essv15968299, essv15968647, essv15968333, essv15968554, essv15968544, essv15968487, essv15968389, essv15968288, essv15968377, essv15968795, essv15968764, essv15968595, essv15968524, essv15968794, essv15968654, essv15968223, essv15968835, essv15968834, essv15968571, essv15968456, essv15968596, essv15968600, essv15968301, essv15968327, essv15968378, essv15968879, essv15968228, essv15968775, essv15968758, essv15968611, essv15968572, essv15968866, essv15968477, essv15968670, essv15968791, essv15968587, essv15968317, essv15968671, essv15968682, essv15968340, essv15968373, essv15968268, essv15968265, essv15968578, essv15968589, essv15968280, essv15968685, essv15968540, essv15968724, essv15968664, essv15968480, essv15968368, essv15968612, essv15968609, essv15968236, essv15968186, essv15968294, essv15968498, essv15968585, essv15968474, essv15968261, essv15968528, essv15968447, essv15968605, essv15968443, essv15968337, essv15968263, essv15968695, essv15968323, essv15968478, essv15968233, essv15968221, essv15968590, essv15968745, essv15968371, essv15968856, essv15968707, essv15968451, essv15968781, essv15968677, essv15968718, essv15968331, essv15968470, essv15968258, essv15968319, essv15968179, essv15968469, essv15968472, essv15968668, essv15968744, essv15968753, essv15968658, essv15968442, essv15968429, essv15968844, essv15968428, essv15968437, essv15968628, essv15968798, essv15968847, essv15968354, essv15968188, essv15968854, essv15968633, essv15968252, essv15968452, essv15968357, essv15968640, essv15968660, essv15968552, essv15968536, essv15968503, essv15968407, essv15968871, essv15968511, essv15968506, essv15968680, essv15968822, essv15968510, essv15968249, essv15968387, essv15968869, essv15968735, essv15968767
SamplesNA20588, HG01985, NA20339, HG00650, HG02496, NA20529, HG00608, HG04060, HG03687, HG03175, HG03517, HG03247, HG03241, HG03449, HG02419, NA18999, HG02836, HG02798, HG04076, HG02600, HG03521, HG03616, HG01486, HG02624, HG03295, NA19684, NA19377, HG02040, HG01461, HG02356, HG03372, NA18633, NA20359, HG02769, NA19067, HG01873, NA19171, NA19379, HG03770, HG00589, NA19315, NA20589, HG02140, NA20320, HG01676, NA20756, HG02756, NA18993, NA18547, HG03913, NA07048, HG03874, HG01528, HG01365, HG03040, HG00243, HG03917, NA19079, NA18949, HG01859, HG02131, HG02562, HG03910, HG03520, HG00632, NA20775, HG01519, NA18868, HG03212, NA19024, HG02178, HG01950, HG04047, NA19239, HG03073, NA20757, NA18867, NA19789, NA19921, HG02943, NA20904, HG03697, NA12489, NA18538, HG00266, NA19070, NA19056, HG03061, HG02070, NA19175, HG00657, HG02449, HG03928, HG02253, HG01879, NA19717, HG02144, HG01498, HG02728, NA20875, HG03159, NA18572, NA18948, HG04177, NA18548, NA18907, NA18537, HG01102, HG03829, HG03301, HG00404, HG03951, HG04173, HG03446, HG04063, HG03451, HG02666, NA19682, HG03006, NA18523, HG02332, HG02896, NA19625, NA18593, HG04093, HG02127, HG03694, HG01896, HG01811, HG02772, NA19652, NA19440, NA18517, HG04026, NA19434, HG03539, HG02546, HG02308, HG02088, NA19454, NA20870, HG03458, NA12873, HG02391, NA18865, HG03869, HG01620, HG03473, HG02464, NA19083, NA19360, NA18615, NA20888, HG03600, HG02379, HG01577, HG00513, HG00478, NA19785, HG03849, HG02768, NA19102, NA18873, HG04098, HG02013, HG02291, HG03470, HG01914, NA19121, HG00595, HG02353, HG00628, HG02643, HG02406, HG03989, HG03864, HG03271, HG00593, HG00626, NA20874, HG03559, HG00592, HG01795, NA19397, NA18924, HG02272, HG01303, HG03965, HG01961, NA20899, HG04202, NA18881, HG02150, NA19734, HG03589, HG02852, HG01374, HG02061, HG04094, HG00699, HG02058, HG04018, NA18625, NA12058, NA20346, NA19190, NA12400, HG02285, HG01500, NA19068, NA19746, HG01341, NA18550, HG02151, HG03757, NA20890, NA18595, HG02087, HG02325, HG03937, HG03765, NA19916, HG00458, HG02549, HG00610, HG03105, HG03629, NA19681, NA19038, HG03460, HG03556, HG02395, HG00262, NA19719, NA18560, HG02885, HG01892, NA12889, NA12815, HG03995, HG02420, HG02138, HG02946, NA20764, NA19209, NA12828, HG03055, NA18908, HG00530, NA19451, HG03709, HG00560, HG00629, NA19657, HG03160, NA19082, HG04062, NA19347, NA19391, HG02554, NA19982, HG00584, NA19788, HG04035, HG04180, HG02976, HG01948, HG02555, HG03123, NA19000, HG00844, NA19655, HG02817, HG03397, HG03078, HG02008, HG01383, HG03740, HG01921, HG04189, HG03571, NA19756, HG00141, NA18536, HG03109, HG02408, HG01589, HG00445, NA18646, HG01700, HG03567, HG02255, HG01363, HG03866, HG03028, HG02684, NA20801, HG00119, NA18535, NA18543, HG03461, HG01954, HG02501, HG02983, NA19732, HG01800, NA07051, HG01598, HG03433, HG01260, NA19786, HG01108, HG03557, HG03419, NA19818, NA19376, HG03432, HG00707, HG01432, HG00446, HG03442, NA19438, HG03646, NA19472, NA12749, HG02032, HG02938, NA19713, HG02396, HG02676, NA18972, HG02861, HG01464, NA18505, HG02808, NA18549, HG02343, HG01583, HG01976, HG02386, NA18745, NA12383, HG02574, HG00542, NA19703, HG03121, NA19909, HG02002, HG01624, HG00671, HG03052, NA18861, NA10851, NA12273, NA18565, HG02026, HG02029, HG02727, HG03115, HG02012, HG00244, NA18639, HG03298, NA20294, NA20298, HG03229, NA20332, NA18959, NA18616, HG01947, HG00449, HG02589, HG02536, NA19443, NA20356, HG03478, HG00693, NA18969, HG03009, NA19107, HG00663, NA18563, HG03133, HG03436, NA18519, HG02621, NA19319, HG04038, HG03016, HG03943, HG02105, HG01351, HG01277, HG04042, HG02266, HG02860, HG02085, HG04182, HG02301, NA19457, NA21108, HG03224, HG01840, HG00334, NA19904, HG02603, NA19130, NA19923, HG01080, NA20518, NA20278, NA21109, HG00325, NA19372, HG00534, NA19235, NA18966, NA20889, NA18990, HG02427, HG02260, HG01709, NA18539, HG02047, HG03363, NA18525, NA19006, HG02075, HG01669, HG00360, NA20885, NA19086, HG01979, HG00583, HG00263, HG01941, HG00275, HG03575, HG02522, HG01345, NA18871, HG03081, HG02508, HG02165, HG01889, HG03472, NA19461, HG00250, HG00479, HG00350, HG01870, HG02881, HG00140, HG03953, NA19099, HG03971, HG02979, NA18555, HG00146, HG03898, NA18858, HG02568, NA18974, HG00407, NA19375, NA19003, NA20872, HG00254, NA19149, NA19147, HG00625, HG02010, NA19747, NA19019, HG03695, HG01685, NA19090, HG01939, HG02611, HG01357, HG03259, HG02982, HG04099, HG01113, HG03727, HG01489, HG02558, HG00339, HG02371, HG03112, HG03977, HG03066, NA21102, HG04014, NA19474, NA20852, NA19093, HG03060, NA18636, NA20289, HG00280, NA19116, NA19080, HG03925, HG03872, HG00728, NA19900, NA18983, HG00105, NA19030, NA19430, NA12890, NA18623, HG04153, HG03303, NA18620, HG04198, HG03514, HG04212, HG00881, HG03366, NA19222, HG02610, HG02652, HG01356, HG00536, HG00231, HG03548, HG01773, HG00524, NA19914, HG01855, NA19332, NA20274, HG02318, HG03607, HG01970, NA18917, HG02891, HG00640, HG00103, NA18545, HG03668, HG03190, NA19393, NA19777, NA19057, HG03667, HG03518, HG03792, HG00879, NA12155, HG03680, HG01140, HG03074, NA19005, HG01366, NA19201, HG01953, HG03135, HG01779, NA20850, NA19762, NA19448, HG00448, HG03485, NA12348, HG03905, NA19771, NA19138, HG02111, HG02489, NA18611, HG03803, HG03826, NA18977, HG01495, NA19731, NA19317, HG03693, HG01932, NA20845, HG04185, NA18864, HG03267, HG03058, HG02180, HG03114, NA19200, HG03270, HG00739, HG02737, HG01183, NA18544, HG02977, NA19210, HG03908, HG01871, HG03007, HG01247, HG02152, HG02025, NA20505, NA19152, HG00190, HG03547, HG04107, HG01515, NA19913, NA19236, NA18516, HG00436, NA18915, HG03428, HG02390, HG01989, NA18637, HG02968, HG01808, HG00619, HG03124, HG02757, HG01049, HG01390, NA18566, HG03871, NA19774, NA19449, HG03382, HG04054, HG03660, HG02649, NA19113, HG02086, HG00525, NA19320, HG03634, HG02292, HG04152, NA19257, HG00276, HG01890, HG02031, HG03354, NA19095, HG03774, HG01596, NA18945, HG01530, NA18542, HG03778, HG02807, HG03809, HG03240, HG02049, HG02682, HG01894, HG00357, NA19435, NA19037, HG01958, HG02651, NA19144, NA12046, HG01977, NA18992, NA19439, HG01974, HG02839, HG01933, NA18643, HG02685, NA19741, NA12874, NA07037, HG01862, HG03084, NA20357, HG02398, HG03789, NA19060, HG03863, HG03049, HG02392, HG01254, HG02462, HG03615, HG00186, HG01817, HG00698, NA19096, HG01872, NA19213, HG02051, HG03162, HG01378, NA18488, HG04056, HG03376, HG02465, HG03072, NA18511, HG03118, HG01578, NA18622, HG00362, NA18562, NA18965, HG01926
Known GenesCSNK1G2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643415
Frequency
Sample Size2504
Observed Gain0
Observed Loss709
Observed Complex0
Frequencyn/a


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