A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635521



Internal ID6675634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100995014..101066069hg38UCSC Ensembl
chr14:101461351..101532406hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3871056
hg1971056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15108718, essv15108236, essv15108293, essv15108379, essv15108130, essv15108528, essv15108175, essv15108323, essv15108712, essv15108201, essv15108291, essv15108382, essv15108324, essv15108575, essv15108239, essv15108385, essv15108702, essv15108280, essv15108318, essv15108165, essv15108690, essv15108125, essv15108327, essv15108336, essv15108422, essv15108543, essv15108711, essv15108517, essv15108756, essv15108250, essv15108571, essv15108634, essv15108530, essv15108350, essv15108340, essv15108466, essv15108554, essv15108317, essv15108246, essv15108278, essv15108503, essv15108211, essv15108673, essv15108400, essv15108724, essv15108223, essv15108496, essv15108745, essv15108341, essv15108156, essv15108442, essv15108410, essv15108583, essv15108672, essv15108610, essv15108337, essv15108667, essv15108163, essv15108326, essv15108500, essv15108612, essv15108200, essv15108730, essv15108292, essv15108640, essv15108281, essv15108617, essv15108727, essv15108482, essv15108548, essv15108494, essv15108749, essv15108222, essv15108409, essv15108684, essv15108576, essv15108214, essv15108329, essv15108432, essv15108330, essv15108356, essv15108372, essv15108609, essv15108716, essv15108141, essv15108300, essv15108606, essv15108128, essv15108458, essv15108627, essv15108523, essv15108247, essv15108294, essv15108550, essv15108183, essv15108226, essv15108365, essv15108613, essv15108133, essv15108351, essv15108746, essv15108739, essv15108660, essv15108731, essv15108334, essv15108444, essv15108700, essv15108398, essv15108467, essv15108728, essv15108480, essv15108582, essv15108674, essv15108447, essv15108725, essv15108162, essv15108234, essv15108297, essv15108354, essv15108218, essv15108701, essv15108144, essv15108155, essv15108151, essv15108283, essv15108564, essv15108686, essv15108635, essv15108642, essv15108192, essv15108579, essv15108195, essv15108580, essv15108628, essv15108296, essv15108240, essv15108276, essv15108383, essv15108661, essv15108227, essv15108245, essv15108389, essv15108202, essv15108393, essv15108551, essv15108652, essv15108655, essv15108568, essv15108726, essv15108274, essv15108663, essv15108414, essv15108348, essv15108370, essv15108391, essv15108741, essv15108678, essv15108729, essv15108154, essv15108529, essv15108639, essv15108740, essv15108599, essv15108254, essv15108369, essv15108451, essv15108584, essv15108124, essv15108120, essv15108140, essv15108203, essv15108127, essv15108427, essv15108498, essv15108616, essv15108430, essv15108205, essv15108698, essv15108474, essv15108692, essv15108715, essv15108419, essv15108284, essv15108275, essv15108488, essv15108632, essv15108699, essv15108520, essv15108457, essv15108147, essv15108149, essv15108169, essv15108598, essv15108641, essv15108735, essv15108264, essv15108438, essv15108643, essv15108345, essv15108570, essv15108743, essv15108515, essv15108532, essv15108595, essv15108556, essv15108620, essv15108508, essv15108248, essv15108577, essv15108531, essv15108298, essv15108644, essv15108602, essv15108463, essv15108229, essv15108416, essv15108495, essv15108545, essv15108666, essv15108272, essv15108313, essv15108719, essv15108347, essv15108436, essv15108544, essv15108734, essv15108405, essv15108721, essv15108219, essv15108539, essv15108619, essv15108675, essv15108233, essv15108270, essv15108403, essv15108181, essv15108604, essv15108402, essv15108343, essv15108562, essv15108586, essv15108646, essv15108131, essv15108493, essv15108198, essv15108486, essv15108307, essv15108178, essv15108308, essv15108271, essv15108268, essv15108172, essv15108399, essv15108408, essv15108126, essv15108381, essv15108434, essv15108521, essv15108526, essv15108367, essv15108630, essv15108316, essv15108477, essv15108371, essv15108710, essv15108221, essv15108626, essv15108487, essv15108468, essv15108525, essv15108387, essv15108625, essv15108361, essv15108638, essv15108587, essv15108453, essv15108567, essv15108431, essv15108450, essv15108615, essv15108185, essv15108333, essv15108290, essv15108299, essv15108452, essv15108546, essv15108459, essv15108309, essv15108559, essv15108569, essv15108676, essv15108303, essv15108560, essv15108558, essv15108669, essv15108687, essv15108374, essv15108413, essv15108680, essv15108607, essv15108621, essv15108364, essv15108376, essv15108591, essv15108659, essv15108199, essv15108392, essv15108733, essv15108732, essv15108481, essv15108501, essv15108650, essv15108319, essv15108357, essv15108561, essv15108623, essv15108160, essv15108527, essv15108754, essv15108435, essv15108537, essv15108228, essv15108241, essv15108614, essv15108597, essv15108469, essv15108142, essv15108704, essv15108760, essv15108179, essv15108344, essv15108428, essv15108516, essv15108167, essv15108302, essv15108566, essv15108170, essv15108654, essv15108231, essv15108238, essv15108135, essv15108339, essv15108505, essv15108536, essv15108750, essv15108143, essv15108331, essv15108670, essv15108636, essv15108742, essv15108132, essv15108206, essv15108273, essv15108622, essv15108263, essv15108758, essv15108664, essv15108449, essv15108243, essv15108608, essv15108159, essv15108363, essv15108375, essv15108295, essv15108552, essv15108736, essv15108454, essv15108497, essv15108547, essv15108288, essv15108506, essv15108685, essv15108499, essv15108522, essv15108689, essv15108187, essv15108555, essv15108629, essv15108502, essv15108738, essv15108751, essv15108304, essv15108251, essv15108355, essv15108490, essv15108723, essv15108504, essv15108653, essv15108759, essv15108168, essv15108714, essv15108755, essv15108440, essv15108549, essv15108473, essv15108665, essv15108311, essv15108362, essv15108484, essv15108677, essv15108404, essv15108157, essv15108461, essv15108633, essv15108148, essv15108722, essv15108196, essv15108312, essv15108445, essv15108518, essv15108136, essv15108681, essv15108150, essv15108217, essv15108237, essv15108705, essv15108366, essv15108534, essv15108573, essv15108397, essv15108696, essv15108572, essv15108691, essv15108565, essv15108695, essv15108429, essv15108538, essv15108574, essv15108213, essv15108618, essv15108194, essv15108647, essv15108134, essv15108648, essv15108433, essv15108417, essv15108184, essv15108286, essv15108563, essv15108261, essv15108249, essv15108460, essv15108259, essv15108232, essv15108388, essv15108513, essv15108603, essv15108637, essv15108717, essv15108462, essv15108332, essv15108269, essv15108693, essv15108359, essv15108266, essv15108289, essv15108186, essv15108204, essv15108310, essv15108439, essv15108277, essv15108418, essv15108656, essv15108588, essv15108260, essv15108507, essv15108121, essv15108601, essv15108423, essv15108420, essv15108425, essv15108541, essv15108166, essv15108346, essv15108519, essv15108553, essv15108657, essv15108441, essv15108338, essv15108123, essv15108472, essv15108146, essv15108380, essv15108412, essv15108456, essv15108352, essv15108353, essv15108524, essv15108489, essv15108253, essv15108301, essv15108668, essv15108708, essv15108377, essv15108757, essv15108437, essv15108190, essv15108483, essv15108426, essv15108585, essv15108421, essv15108407, essv15108225, essv15108492, essv15108485, essv15108285, essv15108322, essv15108390, essv15108512, essv15108706, essv15108235, essv15108455, essv15108631, essv15108593, essv15108600, essv15108679, essv15108752, essv15108335, essv15108540, essv15108424, essv15108703, essv15108139, essv15108535, essv15108209, essv15108605, essv15108737, essv15108386, essv15108476, essv15108224, essv15108252, essv15108511, essv15108514, essv15108590, essv15108594, essv15108174, essv15108215, essv15108744, essv15108682, essv15108328, essv15108279, essv15108645, essv15108177, essv15108182, essv15108360, essv15108470, essv15108267, essv15108401, essv15108465, essv15108688, essv15108378, essv15108464, essv15108129, essv15108191, essv15108592, essv15108152, essv15108491, essv15108748, essv15108180, essv15108709, essv15108173, essv15108479, essv15108153, essv15108176, essv15108478, essv15108753, essv15108596, essv15108305, essv15108411, essv15108193, essv15108395, essv15108342, essv15108406, essv15108707, essv15108471, essv15108658, essv15108581, essv15108475, essv15108542, essv15108747, essv15108368, essv15108611, essv15108683, essv15108145, essv15108197, essv15108373, essv15108662, essv15108265, essv15108697, essv15108220, essv15108448, essv15108510, essv15108255, essv15108349, essv15108509, essv15108720, essv15108207, essv15108171, essv15108446, essv15108287, essv15108713, essv15108694, essv15108396, essv15108394, essv15108242, essv15108230, essv15108320, essv15108321, essv15108189, essv15108158, essv15108306, essv15108358, essv15108557, essv15108384, essv15108671, essv15108216, essv15108651, essv15108315, essv15108649, essv15108578, essv15108325, essv15108624, essv15108138, essv15108256, essv15108533, essv15108164, essv15108188, essv15108589, essv15108210, essv15108161, essv15108258, essv15108761, essv15108212, essv15108262, essv15108314, essv15108244, essv15108122, essv15108257, essv15108415, essv15108282, essv15108208, essv15108137, essv15108443
SamplesNA18642, HG02317, HG03598, HG01440, NA20351, HG01104, HG03064, HG03382, NA19089, HG01811, HG02736, HG01852, NA19081, HG00437, HG00500, HG01882, NA20851, HG00565, HG01800, HG02792, HG01079, HG01777, HG01845, HG02152, HG02139, HG02648, HG00463, HG01325, HG01365, HG01850, NA19923, HG02153, NA21133, HG01816, HG01488, HG00428, HG01915, NA18865, HG03920, HG01605, HG02375, NA18546, NA21135, HG00404, HG02277, NA19320, NA20763, HG00335, HG04214, HG03916, HG02150, HG02355, HG03378, HG01860, HG04152, NA19472, HG04209, NA18625, NA18950, NA19037, HG02082, HG01765, HG02081, HG00556, NA21111, HG03193, HG04144, NA19076, HG01312, HG03054, HG00421, HG00406, NA18635, HG03953, HG00259, NA19443, HG02221, NA18623, HG01866, HG01395, NA18636, HG01124, NA18592, NA19083, NA18609, NA18637, HG00451, HG04222, HG03603, HG04063, NA18593, HG02380, HG03079, HG03781, HG00407, NA19086, HG01986, NA19042, HG02737, HG03895, NA19000, HG02392, HG00844, HG03169, HG03126, HG04017, NA19080, HG01600, NA19189, HG02537, HG02382, NA18633, HG00653, HG01191, HG04161, HG02541, HG00766, NA18939, NA18986, NA21107, NA21112, HG00851, NA19002, HG00099, HG01773, HG01281, NA19664, HG00672, HG01170, HG02558, NA18961, HG01080, HG01351, HG03778, NA18878, HG02087, HG02386, NA19001, HG03072, HG03073, HG02364, HG04162, HG00458, HG00525, HG01805, NA18910, HG01341, HG02113, HG03228, HG00236, NA20355, HG01921, HG02374, HG04235, HG00109, NA18619, NA18987, HG01697, HG02484, HG00445, NA18597, NA19921, NA20276, HG01695, NA19025, HG01801, HG02238, NA18740, HG03238, NA12812, HG01799, HG03367, HG01893, NA20274, NA20298, HG03872, NA18544, NA19818, HG03105, NA18879, NA19475, HG02252, HG03708, HG00530, HG01802, NA19740, HG01804, HG03074, HG02256, HG02089, HG04177, NA19006, HG00708, HG03077, HG02271, NA18610, NA19752, HG01119, HG00566, NA20904, HG01985, NA12874, HG00473, NA19350, HG03695, HG04171, NA18615, HG02051, HG03720, HG00376, HG00671, NA19087, HG00704, HG02860, HG03907, NA18555, HG00271, HG02396, HG02367, HG00531, HG03095, HG03775, HG02253, HG03091, HG01686, HG02580, HG01372, NA19913, NA18647, HG00881, HG01459, HG03963, NA19625, HG01768, HG01775, HG00536, HG02793, HG01798, HG02108, HG01846, HG01675, NA19321, HG01700, HG02138, HG02184, HG01817, HG00743, HG01130, NA18561, NA18933, HG01055, HG04202, HG01046, HG02086, HG02546, HG03703, HG01342, HG02407, NA18612, HG03112, HG02983, NA19783, HG01858, HG03693, HG00879, HG03304, HG03634, HG01849, NA19060, NA19090, HG01794, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, HG03295, HG04211, HG02006, NA18993, HG01624, NA20775, HG02979, NA19430, HG01847, HG03611, NA20511, NA18877, HG03709, NA20808, HG00452, HG01492, HG04026, HG03894, HG03265, HG01685, HG02885, NA19010, HG02887, HG02002, HG01432, HG01883, HG02652, NA18573, NA18608, NA21130, HG01049, HG03234, NA18542, HG00446, HG02379, HG01131, HG00701, HG01680, HG02389, HG04216, HG01029, HG02760, NA19004, HG00557, HG02232, HG01961, HG01990, HG04100, NA19474, HG01848, NA19780, HG01348, HG01841, HG01843, NA19308, HG00188, HG00479, HG03756, HG01133, HG01812, HG01435, HG04076, NA18632, HG00342, HG02895, NA21106, HG02836, HG00543, HG03667, HG02455, HG04238, NA18559, HG01924, HG02053, HG01982, HG02981, NA19982, HG01086, HG04210, HG02360, NA18624, HG03127, HG03235, HG03736, HG01796, HG00472, HG01618, HG02397, HG01028, HG01414, NA18566, HG00337, NA19057, HG00332, HG02050, HG03202, NA18618, HG01623, NA19900, HG02292, HG03686, HG03867, NA19011, HG02968, HG02032, HG01851, HG00689, HG02373, HG01620, HG00628, HG04194, NA20762, HG01795, NA18876, HG01556, HG03965, HG00419, HG03583, NA18547, NA20282, HG02356, HG03604, HG03917, HG00637, HG00403, HG00982, HG03166, NA21144, HG03595, HG01599, HG03971, HG01797, HG03063, NA19213, HG04059, HG03225, HG02304, HG02131, HG01280, NA21143, NA18537, NA18620, HG02383, HG03190, HG02019, HG02127, HG01413, NA18525, NA18572, HG00268, HG01066, HG02102, NA20767, HG02178, HG00382, HG00629, HG01806, HG01914, HG02278, NA20334, NA19713, NA20864, HG02040, HG02439, HG01853, HG03944, NA18941, HG01369, HG04239, NA18749, HG02401, HG03619, NA18748, HG01676, HG01699, HG02787, HG00478, NA18564, NA19347, NA19332, HG03733, HG04212, HG02384, NA18988, HG00341, HG01767, NA19074, HG01060, HG02479, HG03297, NA18579, NA19091, HG03945, HG02395, HG02690, NA19462, HG01598, HG02085, HG01880, NA18606, HG02345, HG02406, NA18543, HG01779, NA18582, HG00595, HG02301, HG01326, HG03237, HG04155, NA18599, HG02235, HG03875, NA18567, NA19078, HG00611, NA18995, NA06984, HG01673, HG01269, HG03694, HG00663, NA20867, HG03702, NA18560, HG00580, HG00378, HG00448, NA18577, HG02141, HG03240, NA21117, HG01619, HG02891, HG03343, HG00656, NA18571, HG00422, HG03857, HG02409, HG02476, HG01808, HG01855, HG02353, NA18984, HG03060, NA18611, HG01125, HG03016, HG02399, HG00324, HG03850, NA18532, NA18549, NA18574, HG00442, HG01462, NA19079, NA19473, HG02391, HG01678, HG00476, HG02013, HG01857, HG00272, HG04195, HG00278, NA19007, HG02130, HG02774, NA20339, HG01067, HG00128, NA20863, NA18621, HG04225, HG00537, HG02250, HG02882, NA18605, NA19712, HG03279, HG03760, NA18595, NA18616, HG02371, HG03668, HG01284, HG00619, NA18534, HG01353, HG03479, HG00234, HG00956, HG00978, HG02164, HG03478, NA18526, HG00457, HG03086, HG04096, NA18545, NA18603, HG03189, HG01197, HG02104, NA19795, HG00475, HG02946, NA20321, HG03111, HG03298, HG00698, HG03103, NA18994, HG01920, NA18963, HG01844, HG03951, HG03967, HG04176, HG01134, HG01861, HG04200, HG00113, HG01142, HG03949, NA20755, HG01682, HG01840, NA18596, NA18628, HG00592, NA19077, NA20320, HG01917, HG02259, HG03955, HG02390, NA19085, HG00346, HG04206, NA19314, HG02699, HG04075, HG04188, HG02700, NA20764, HG01248, NA18536, HG04164, NA18622, HG01402, HG00759, HG01061, HG01398, NA18617, NA18641, HG00692, HG02012, HG00121, HG02385, HG01684, HG03130, HG01879
Known GenesMIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR134, MIR154, MIR299, MIR300, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR369, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR485, MIR487A, MIR487B, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR654, MIR655, MIR668, MIR758, MIR889
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635521
Frequency
Sample Size2504
Observed Gain642
Observed Loss0
Observed Complex0
Frequencyn/a


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