A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628853



Internal ID6668994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23786512..23787278hg38UCSC Ensembl
Innerchr12:23786542..23787248hg38UCSC Ensembl
Outerchr12:23786482..23787308hg38UCSC Ensembl
chr12:23939446..23940212hg19UCSC Ensembl
Innerchr12:23939476..23940182hg19UCSC Ensembl
Outerchr12:23939416..23940242hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410735, essv14410246, essv14410584, essv14410761, essv14410372, essv14410777, essv14410292, essv14410874, essv14410436, essv14410401, essv14410595, essv14410284, essv14410652, essv14410281, essv14410772, essv14410341, essv14410415, essv14410297, essv14410873, essv14410250, essv14410314, essv14410338, essv14410290, essv14410327, essv14410444, essv14410433, essv14410351, essv14410417, essv14410427, essv14410422, essv14410733, essv14410343, essv14410568, essv14410429, essv14410515, essv14410307, essv14410234, essv14410301, essv14410753, essv14410801, essv14410504, essv14410648, essv14410336, essv14410260, essv14410536, essv14410600, essv14410783, essv14410891, essv14410841, essv14410458, essv14410556, essv14410702, essv14410571, essv14410862, essv14410587, essv14410438, essv14410800, essv14410302, essv14410546, essv14410829, essv14410849, essv14410391, essv14410598, essv14410273, essv14410385, essv14410350, essv14410259, essv14410731, essv14410651, essv14410877, essv14410296, essv14410367, essv14410677, essv14410333, essv14410605, essv14410294, essv14410670, essv14410567, essv14410487, essv14410816, essv14410570, essv14410630, essv14410824, essv14410470, essv14410682, essv14410766, essv14410225, essv14410316, essv14410377, essv14410420, essv14410394, essv14410510, essv14410548, essv14410521, essv14410494, essv14410509, essv14410261, essv14410265, essv14410313, essv14410369, essv14410683, essv14410561, essv14410435, essv14410224, essv14410407, essv14410612, essv14410382, essv14410635, essv14410746, essv14410715, essv14410463, essv14410496, essv14410573, essv14410617, essv14410473, essv14410837, essv14410364, essv14410541, essv14410601, essv14410844, essv14410861, essv14410711, essv14410852, essv14410854, essv14410352, essv14410304, essv14410691, essv14410516, essv14410378, essv14410277, essv14410374, essv14410502, essv14410736, essv14410797, essv14410242, essv14410632, essv14410857, essv14410445, essv14410616, essv14410271, essv14410363, essv14410868, essv14410850, essv14410471, essv14410712, essv14410599, essv14410846, essv14410282, essv14410490, essv14410878, essv14410370, essv14410383, essv14410618, essv14410882, essv14410574, essv14410690, essv14410845, essv14410450, essv14410633, essv14410552, essv14410399, essv14410475, essv14410695, essv14410405, essv14410466, essv14410535, essv14410749, essv14410325, essv14410707, essv14410886, essv14410451, essv14410774, essv14410274, essv14410305, essv14410828, essv14410404, essv14410511, essv14410629, essv14410226, essv14410580, essv14410479, essv14410696, essv14410359, essv14410358, essv14410685, essv14410708, essv14410576, essv14410851, essv14410775, essv14410665, essv14410312, essv14410594, essv14410249, essv14410794, essv14410324, essv14410565, essv14410227, essv14410455, essv14410542, essv14410554, essv14410679, essv14410640, essv14410615, essv14410796, essv14410309, essv14410589, essv14410752, essv14410723, essv14410217, essv14410233, essv14410489, essv14410604, essv14410776, essv14410481, essv14410826, essv14410272, essv14410508, essv14410803, essv14410386, essv14410659, essv14410300, essv14410778, essv14410482, essv14410547, essv14410245, essv14410834, essv14410448, essv14410291, essv14410530, essv14410666, essv14410718, essv14410839, essv14410890, essv14410572, essv14410590, essv14410419, essv14410745, essv14410286, essv14410655, essv14410657, essv14410751, essv14410310, essv14410513, essv14410631, essv14410222, essv14410298, essv14410393, essv14410779, essv14410221, essv14410625, essv14410264, essv14410693, essv14410270, essv14410308, essv14410737, essv14410240, essv14410362, essv14410644, essv14410780, essv14410514, essv14410241, essv14410581, essv14410622, essv14410771, essv14410278, essv14410870, essv14410628, essv14410706, essv14410758, essv14410524, essv14410627, essv14410713, essv14410806, essv14410643, essv14410688, essv14410239, essv14410540, essv14410641, essv14410342, essv14410500, essv14410412, essv14410827, essv14410742, essv14410662, essv14410467, essv14410322, essv14410243, essv14410836, essv14410380, essv14410319, essv14410339, essv14410440, essv14410810, essv14410871, essv14410268, essv14410885, essv14410476, essv14410360, essv14410739, essv14410527, essv14410700, essv14410792, essv14410236, essv14410717, essv14410529, essv14410883, essv14410384, essv14410557, essv14410588, essv14410781, essv14410501, essv14410597, essv14410414, essv14410495, essv14410646, essv14410729, essv14410348, essv14410823, essv14410454, essv14410560, essv14410624, essv14410808, essv14410684, essv14410371, essv14410449, essv14410821, essv14410636, essv14410701, essv14410822, essv14410232, essv14410699, essv14410462, essv14410727, essv14410730, essv14410880, essv14410884, essv14410220, essv14410237, essv14410349, essv14410606, essv14410664, essv14410361, essv14410687, essv14410592, essv14410663, essv14410416, essv14410472, essv14410424, essv14410453, essv14410388, essv14410446, essv14410551, essv14410608, essv14410585, essv14410483, essv14410660, essv14410744, essv14410555, essv14410229, essv14410398, essv14410480, essv14410661, essv14410770, essv14410811, essv14410331, essv14410757, essv14410764, essv14410704, essv14410228, essv14410537, essv14410523, essv14410879, essv14410634, essv14410763, essv14410769, essv14410831, essv14410251, essv14410722, essv14410623, essv14410755, essv14410563, essv14410676, essv14410686, essv14410389, essv14410638, essv14410326, essv14410669, essv14410518, essv14410728, essv14410392, essv14410218, essv14410459, essv14410853, essv14410354, essv14410550, essv14410650, essv14410818, essv14410432, essv14410488, essv14410724, essv14410815, essv14410719, essv14410784, essv14410439, essv14410469, essv14410549, essv14410355, essv14410754, essv14410759, essv14410840, essv14410256, essv14410365, essv14410819, essv14410709, essv14410403, essv14410413, essv14410674, essv14410626, essv14410697, essv14410721, essv14410889, essv14410428, essv14410799, essv14410789, essv14410460, essv14410602, essv14410673, essv14410858, essv14410596, essv14410747, essv14410767, essv14410553, essv14410842, essv14410461, essv14410577, essv14410734, essv14410566, essv14410768, essv14410798, essv14410442, essv14410762, essv14410468, essv14410875, essv14410285, essv14410865, essv14410609, essv14410642, essv14410303, essv14410532, essv14410621, essv14410491, essv14410402, essv14410805, essv14410492, essv14410562, essv14410726, essv14410825, essv14410820, essv14410614, essv14410872, essv14410315, essv14410531, essv14410456, essv14410864, essv14410505, essv14410368, essv14410497, essv14410564, essv14410814, essv14410582, essv14410409, essv14410860, essv14410486, essv14410507, essv14410525, essv14410534, essv14410586, essv14410533, essv14410773, essv14410863, essv14410760, essv14410478, essv14410558, essv14410267, essv14410790, essv14410289, essv14410503, essv14410254, essv14410795, essv14410317, essv14410379, essv14410431, essv14410543, essv14410743, essv14410620, essv14410678, essv14410279, essv14410311, essv14410578, essv14410732, essv14410443, essv14410287, essv14410807, essv14410887, essv14410681, essv14410390, essv14410340, essv14410255, essv14410499, essv14410866, essv14410425, essv14410741, essv14410692, essv14410344, essv14410418, essv14410610, essv14410434, essv14410613, essv14410231, essv14410575, essv14410235, essv14410680, essv14410714, essv14410785, essv14410788, essv14410738, essv14410591, essv14410248, essv14410375, essv14410856, essv14410238, essv14410838, essv14410295, essv14410645, essv14410668, essv14410387, essv14410538, essv14410430, essv14410346, essv14410437, essv14410410, essv14410373, essv14410288, essv14410474, essv14410498, essv14410247, essv14410275, essv14410328, essv14410725, essv14410813, essv14410357, essv14410400, essv14410782, essv14410812, essv14410356, essv14410647, essv14410519, essv14410366, essv14410526, essv14410447, essv14410787, essv14410843, essv14410667, essv14410266, essv14410649, essv14410710, essv14410539, essv14410452, essv14410611, essv14410493, essv14410353, essv14410671, essv14410786, essv14410672, essv14410833, essv14410637, essv14410689, essv14410694, essv14410219, essv14410698, essv14410705, essv14410720, essv14410253, essv14410441, essv14410283, essv14410559, essv14410583, essv14410791, essv14410421, essv14410522, essv14410802, essv14410411, essv14410280, essv14410337, essv14410244, essv14410252, essv14410619, essv14410848, essv14410750, essv14410485, essv14410888, essv14410830, essv14410320, essv14410408, essv14410847, essv14410544, essv14410332, essv14410654, essv14410276, essv14410869, essv14410465, essv14410330, essv14410656, essv14410569, essv14410396, essv14410817, essv14410335, essv14410257, essv14410334, essv14410716, essv14410675, essv14410258, essv14410347, essv14410345, essv14410881, essv14410223, essv14410653, essv14410477, essv14410545, essv14410740, essv14410876, essv14410756, essv14410426, essv14410867, essv14410703, essv14410306, essv14410859, essv14410835, essv14410512, essv14410855, essv14410506, essv14410639, essv14410269, essv14410484, essv14410579, essv14410299, essv14410765, essv14410397, essv14410793, essv14410376, essv14410464, essv14410262, essv14410528, essv14410395, essv14410321, essv14410658, essv14410293, essv14410457, essv14410517, essv14410381, essv14410263, essv14410603, essv14410329, essv14410748, essv14410804, essv14410607, essv14410406, essv14410593, essv14410323, essv14410520, essv14410230, essv14410809, essv14410318, essv14410832, essv14410423
SamplesNA18642, HG01357, HG00380, HG02724, HG02317, NA20876, HG03705, HG00257, HG03646, HG02649, HG03351, HG03729, HG01896, HG02597, NA21110, HG01988, NA18523, HG01882, NA20851, HG02727, NA18757, HG00186, HG00131, HG01105, HG02334, NA20346, NA19223, HG02419, HG01777, HG01389, HG02450, HG00463, HG03452, NA19334, NA19923, HG00189, HG04060, NA20800, HG01082, NA18517, HG00542, HG03653, HG00139, NA18541, HG00683, HG00334, HG00355, HG02322, NA20845, NA20861, HG04094, NA19701, HG03796, HG03916, HG03378, HG00353, HG00290, HG00554, HG02308, HG03817, HG02585, NA20412, HG03558, HG02420, HG00158, HG02775, HG03461, NA12763, NA19984, NA11840, NA19309, HG00406, NA18635, NA19197, NA19471, HG01048, HG03624, HG03770, HG02410, HG03793, HG00533, HG03520, HG04222, HG03603, NA18593, HG00284, NA19457, HG00407, NA19086, HG01986, NA20847, NA19000, HG01443, HG00844, NA19360, HG02878, HG04025, NA19372, HG03792, HG02541, NA19024, HG03854, NA12348, NA19102, HG01486, NA21107, HG03547, HG02786, HG00176, HG02073, NA19119, NA19002, HG00099, HG00265, HG02501, HG03168, HG01069, HG02938, NA20878, HG00277, HG03096, HG03788, HG02386, NA19001, NA20797, HG01260, NA21093, HG00534, HG02307, NA19328, HG01702, HG01341, HG01894, HG03022, HG03823, NA19711, HG02586, HG03118, HG03713, HG01512, NA19141, HG00674, HG03132, HG03385, HG00109, HG02947, HG03691, NA12272, NA18909, NA19035, NA19201, HG01345, NA19025, HG03045, NA12413, HG03238, HG03990, NA12812, NA20518, HG03771, HG01256, HG03367, NA21087, HG01893, NA20298, HG02628, HG03872, HG03018, HG00608, HG03105, HG03999, NA12878, NA19475, NA21086, HG03123, NA21089, HG02187, NA11830, NA20810, HG00285, NA18944, HG03259, HG00238, NA20886, NA20869, HG01366, NA18924, NA20543, HG01108, HG03718, HG02682, NA12045, NA20792, NA11932, HG02445, NA19130, HG03830, NA19346, HG00690, HG04015, HG00183, NA19113, NA18981, HG02315, HG02555, HG03515, NA18908, NA19454, HG01807, HG02332, NA21091, HG03907, HG00271, HG04182, NA19779, HG00107, HG01578, HG03095, HG00327, HG01686, HG02691, HG03163, HG02666, HG03684, HG04131, HG01513, NA20887, HG01459, HG03058, HG00734, HG01359, HG01775, NA18861, HG00356, NA12750, HG01790, HG03706, NA20514, HG03785, NA12748, HG00304, HG01675, HG02621, HG02970, HG01700, HG02398, NA18528, NA20278, NA20809, HG00344, HG01072, NA19222, NA20866, HG01055, HG03342, NA18975, HG01046, HG01873, HG02023, HG02086, HG01205, NA20906, NA21123, HG02600, HG03410, NA19401, HG03055, HG03304, NA19149, HG00310, HG02513, HG02734, NA19072, HG02318, HG03295, NA19455, HG04014, NA20299, NA19430, HG02943, HG02974, NA12813, NA18877, HG02014, HG02952, HG03663, HG03709, NA18591, HG01492, HG01528, HG03894, HG02885, NA19010, HG00375, HG02733, HG00173, HG02652, HG01049, HG03234, NA19782, NA19461, HG00190, HG01679, NA21098, HG00122, HG01131, NA20900, HG02389, HG03680, HG01188, NA19017, HG01500, HG03019, HG00651, NA19678, NA11893, HG00331, HG01990, HG03928, NA19474, HG02778, NA21120, HG01841, HG01843, NA19467, NA20877, HG00188, HG03457, HG00479, HG03159, NA19438, HG00256, HG04076, NA21106, HG00244, HG01311, HG00115, HG02455, HG04238, HG01924, NA19726, NA19067, NA19428, NA20585, NA19383, NA20885, HG02684, HG00250, NA18992, HG01510, HG03672, HG02654, NA20356, NA21088, HG01618, HG01414, NA18566, HG00337, NA19057, HG02121, HG01865, HG03202, HG01595, HG03686, HG02577, NA19011, NA21127, HG00231, HG02032, HG00372, HG01851, NA18991, NA12814, NA18856, HG03862, HG03844, NA18876, NA19066, HG00150, HG03871, NA12829, HG01527, HG02028, NA18973, NA20282, HG03565, HG03604, HG03864, NA20892, HG02595, HG03166, NA12830, HG04227, HG01599, HG03971, HG00133, NA18539, HG00114, HG00867, HG02941, NA19213, NA19676, HG04059, HG02283, HG03225, NA21122, HG02304, HG03902, NA19377, NA19153, HG02383, HG00360, HG01308, NA19393, HG00382, NA18923, HG03743, HG01914, NA06986, HG03754, HG00260, HG03472, NA20864, NA20540, NA20822, HG01073, NA18558, NA18977, HG03931, HG04080, HG03849, HG04062, HG02611, HG03740, NA12872, NA18748, HG01699, HG01786, HG00478, NA18858, HG00116, HG00132, HG01889, NA20774, HG02494, NA19332, HG00513, HG03428, HG04212, HG03157, HG00246, NA19074, NA19131, NA19159, HG01060, HG02052, HG02479, HG03297, HG03738, NA19307, NA19318, HG02614, NA19462, HG03115, HG03943, NA18945, NA20891, HG03175, NA20858, NA21103, HG00151, HG01779, HG03108, NA11832, NA18999, HG01162, HG00595, NA21126, HG01393, HG00181, HG02923, HG01971, HG03789, NA18915, HG02688, HG03644, HG03989, HG00362, NA18560, HG01112, HG00378, HG01669, HG02144, HG03198, HG02481, NA18577, HG02561, HG03240, NA12003, HG00281, HG03890, NA19327, HG02891, HG03343, HG01593, NA12399, HG01058, HG03025, NA18571, HG02476, HG01855, HG03270, NA19070, HG02353, NA18611, NA19095, HG03449, HG03814, HG00251, HG02485, HG03016, NA19171, HG02399, HG03372, HG03850, NA18574, NA18853, HG03117, HG01522, NA19079, HG03837, HG01110, HG01781, HG03517, HG00336, HG00476, HG02013, NA20502, HG03826, HG01789, NA19468, NA20538, HG02493, NA19750, HG01602, HG02774, HG00381, HG01067, HG02179, HG00128, HG01870, HG02282, HG02610, HG03082, HG02140, HG03136, HG01610, HG02725, NA11881, NA20903, HG01761, HG02107, HG02854, HG03121, HG00537, HG03120, HG00252, HG02882, HG03900, HG02810, NA19214, NA20771, HG03861, HG03668, NA21113, HG01353, NA18630, HG00234, HG03940, HG00129, HG00350, HG03744, HG00351, NA11920, HG03856, NA19209, NA18501, HG02549, HG04096, NA20888, HG03189, HG00657, HG02783, HG03133, HG01615, NA20902, NA19795, HG02722, HG03571, NA20889, HG02884, HG00148, NA19920, NA12005, NA18489, HG01762, NA18994, NA20897, HG01844, HG03967, HG04180, HG00280, HG03833, HG04200, HG00177, HG03714, HG00737, HG00699, NA18557, NA18943, HG01171, HG03863, HG01840, NA18628, NA19143, NA20340, HG03897, HG03836, HG01597, HG02982, NA19463, NA20896, NA19085, HG04206, NA19314, HG04075, HG04188, HG00593, HG00096, HG01583, HG04153, HG00728, HG02012, HG02557, HG00149, HG01684, HG03130, HG02143, HG00174, HG01362, NA19042, HG02737, HG03780, NA20769, HG03869, NA19247, NA19395, NA18747, NA19129, HG02449, HG04141, HG02054, NA19374, NA20348, HG00766, HG03473, HG00185, HG03870, NA19027, NA20910, HG00255, NA18968, NA18986, HG02461, NA20753
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628853
Frequency
Sample Size2504
Observed Gain0
Observed Loss675
Observed Complex0
Frequencyn/a


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