A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421969



Internal ID7905731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532272..73561413hg38UCSC Ensembl
Innerchr14:73998976..74028117hg19UCSC Ensembl
Innerchr14:73068729..73097870hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3829142
hg1929142
hg1829142
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5022279, essv5157731, essv5041782, essv5025313, essv5099466, essv5004918, essv5011431, essv5004246, essv5060013, essv5090751, essv5012721, essv5117637, essv5161170, essv5100238, essv5079954, essv5154602, essv5061093, essv5160446, essv5017008, essv5089223, essv5110595, essv5143154, essv5033183, essv5102292, essv5133760, essv5081722, essv5112107, essv5133602, essv5062474, essv5069234, essv5148647, essv5066311, essv5086119, essv5033899, essv5002894, essv5012684, essv5106551, essv5046480, essv5088543, essv5021268, essv5138811, essv5133645, essv5062484, essv5038737, essv5126492, essv5021256, essv5080602, essv5015845, essv5087613, essv5138017, essv5076250, essv5084125, essv5130879, essv5019027, essv5099800, essv5083073, essv5100875, essv5063191, essv5080167, essv5008897, essv5045596, essv5057397, essv5118182, essv5051895, essv5112722, essv5113437, essv5140496, essv5010314, essv5147312, essv5092548, essv5137994, essv5079561, essv5160067, essv5131286, essv5072490, essv5027872, essv5119851, essv5012477, essv5050977, essv5141228, essv5086002, essv5097786, essv5131054, essv5068561, essv5118517, essv5092259, essv5119364, essv5065702, essv5160772, essv5119460, essv5077292, essv5079592, essv5083708, essv5144466, essv5051247, essv5113310, essv5132183, essv5074088, essv5018214, essv5064853, essv5005261, essv5064534, essv5125420, essv5128748, essv5034972, essv5083851, essv5090936, essv5101038, essv5037705, essv5081520, essv5118379, essv5028752, essv5035875, essv5060975, essv5140910, essv5097558, essv5123405, essv5065470, essv5047808, essv5075882, essv5114616, essv5014752, essv5017926, essv5153029, essv5023882, essv5031638, essv5139284, essv5073165, essv5120135, essv5137569, essv5084946, essv5152991, essv5072381, essv5137096, essv5019059, essv5144516, essv5001990, essv5021474, essv5013712, essv5033093, essv5047778, essv5070884, essv5007856, essv5012662, essv5016650, essv5014927, essv5047823, essv5100463, essv5029081, essv5146151, essv5087802, essv5120104, essv5071594, essv5084026, essv5040109, essv5078906, essv5054553, essv5124758, essv5042087, essv5048618, essv5105498, essv5016430, essv5018508, essv5042386, essv5074734, essv5093737, essv5013042, essv5073426, essv5141961, essv5031514, essv5138880, essv5035401, essv5073948, essv5016671, essv5030624, essv5053415, essv5100587, essv5149844, essv5066954, essv5096099, essv5073575, essv5093581, essv5139216, essv5005299, essv5038667, essv5040987, essv5101705, essv5002928, essv5109359, essv5030107, essv5054671, essv5051900, essv5063684, essv5129680, essv5029388, essv5051796, essv5130602, essv5045661, essv5148047, essv5042111, essv5065544, essv5094514, essv5160198, essv5116490, essv5013106, essv5095224, essv5009288, essv5089859, essv5065239, essv5118319, essv5139310, essv5081644, essv5120267, essv5039440, essv5024124, essv5064438, essv5030168, essv5010556, essv5037457, essv5024895, essv5033433, essv5043867, essv5052660, essv5088755, essv5043264, essv5107339, essv5148926, essv5053430, essv5003754, essv5097432, essv5109671, essv5036521, essv5085445, essv5146698, essv5088119, essv5055826, essv5102649, essv5027799, essv5051212, essv5016216, essv5062065, essv5048755, essv5151984, essv5098252, essv5112338, essv5108721, essv5123928, essv5153253, essv5017214, essv5133849, essv5086243, essv5053032, essv5012143, essv5114667, essv5019413, essv5102080, essv5129855, essv5006074, essv5023162, essv5150199, essv5124329, essv5132211, essv5140353, essv5035183, essv5062946, essv5089705, essv5091525, essv5053765, essv5064424, essv5013892, essv5035876, essv5091805, essv5031749, essv5129135, essv5007911, essv5023895, essv5081117, essv5111108, essv5111295, essv5057787, essv5120209, essv5154350, essv5115954, essv5150997, essv5131813, essv5145563, essv5019118, essv5059510, essv5046239, essv5070759, essv5114951, essv5011258, essv5097385, essv5023321, essv5068303, essv5090272, essv5091359, essv5074371, essv5122478, essv5091015, essv5045955, essv5069056, essv5022575, essv5064241, essv5076291, essv5132514, essv5156153, essv5052894, essv5073000, essv5071111, essv5152725, essv5051608, essv5009073, essv5114043, essv5071813, essv5104598, essv5028974, essv5047503, essv5156116, essv5071567, essv5029974, essv5038921, essv5083196, essv5129648, essv5050135, essv5022296, essv5041132, essv5059311, essv5107411, essv5055920, essv5027576, essv5028350, essv5040840, essv5009642, essv5115635, essv5064802, essv5017839, essv5055842, essv5158539, essv5061385, essv5078505, essv5062364, essv5155190, essv5157848, essv5040169, essv5085624, essv5102890, essv5155450, essv5054011, essv5119038, essv5026723, essv5067159, essv5059957, essv5083979, essv5133885, essv5036055, essv5108305, essv5155160, essv5040885, essv5071179, essv5148250, essv5151296, essv5010765, essv5039460, essv5026808, essv5097923, essv5006146, essv5007470, essv5035332, essv5040510, essv5050902, essv5086251, essv5082450, essv5007307, essv5039269, essv5016071, essv5082587, essv5136394, essv5088017, essv5132110, essv5004757, essv5061498, essv5096374, essv5116958, essv5048864, essv5089545, essv5068642, essv5105099, essv5054892, essv5102657, essv5061937, essv5127726, essv5140212, essv5009520, essv5070048, essv5143881, essv5081312, essv5098613, essv5081763, essv5019484, essv5067129, essv5139856, essv5143660, essv5013877, essv5092249, essv5020685, essv5138293, essv5039247, essv5101958, essv5126666, essv5150188, essv5017624, essv5091404, essv5117680, essv5120016, essv5041773, essv5090087, essv5133379, essv5104766, essv5140621, essv5156970, essv5052902, essv5057154, essv5079604, essv5021156, essv5005290, essv5065292, essv5100813, essv5029476, essv5151148, essv5079966, essv5003781, essv5019423, essv5048721, essv5062595, essv5024485, essv5128182, essv5024381, essv5135033, essv5015536, essv5093303, essv5107242, essv5069699, essv5098238, essv5115972, essv5117283, essv5020735, essv5030679, essv5058748, essv5144385, essv5055176, essv5064689, essv5110409, essv5027596, essv5041320, essv5153103, essv5009765, essv5078274, essv5128968, essv5026525, essv5027429, essv5075094, essv5082664, essv5092116, essv5094613, essv5024237, essv5039414, essv5096579, essv5141079, essv5045765, essv5045785, essv5127547, essv5037544, essv5073927, essv5076246, essv5118412, essv5040807, essv5130389, essv5140236, essv5044264, essv5150890, essv5103131, essv5125573, essv5016933, essv5070460, essv5076517, essv5133064, essv5019370, essv5050459, essv5077260, essv5122322, essv5014253, essv5108173, essv5146263, essv5103097, essv5032607, essv5060166, essv5039887, essv5086144, essv5121683, essv5115309, essv5146970, essv5154705, essv5005309, essv5018694, essv5130055, essv5142006, essv5014644, essv5047899, essv5088794, essv5097605, essv5129106, essv5044140, essv5138222, essv5084325, essv5127426, essv5062331, essv5127892, essv5021340, essv5023512, essv5121878, essv5062129, essv5097285, essv5127319, essv5070332, essv5084918, essv5154736, essv5011092, essv5076915, essv5024665, essv5160725, essv5151547, essv5085716, essv5140230, essv5055656, essv5006667, essv5153513, essv5114167, essv5051122, essv5124130, essv5008273, essv5060682, essv5147132, essv5063271, essv5007297, essv5021985, essv5126566, essv5086279, essv5133367, essv5027217, essv5089438, essv5052370, essv5062744, essv5017331, essv5005285, essv5086403, essv5002324, essv5089218, essv5136307, essv5094282, essv5105988, essv5032760, essv5146908, essv5155843, essv5092562, essv5096957, essv5033492, essv5110947, essv5117349, essv5013180, essv5118968, essv5130297, essv5049942, essv5121592, essv5031485, essv5074990, essv5063496, essv5036230, essv5012858, essv5010209, essv5146246, essv5062219, essv5153493, essv5053951, essv5080386, essv5068259, essv5115072, essv5155547, essv5063270, essv5038145, essv5054197, essv5072561, essv5030293, essv5034202, essv5088513, essv5040962, essv5057203, essv5032057, essv5032542, essv5057638, essv5098085, essv5003798, essv5122929, essv5126000, essv5141716, essv5081442, essv5009370, essv5074609, essv5127367, essv5011952, essv5038315, essv5152574, essv5062496, essv5157736, essv5027868, essv5152329, essv5158189, essv5038575, essv5106954, essv5127571, essv5114418, essv5131156, essv5026179, essv5098375, essv5019384, essv5083622, essv5159306, essv5027564, essv5159131, essv5151069, essv5159429, essv5070494, essv5046272, essv5090745, essv5107357, essv5087300, essv5136373, essv5156046, essv5120665, essv5037467, essv5100631, essv5136569, essv5004604, essv5007205, essv5082299, essv5090342, essv5128923, essv5023405, essv5024553, essv5065704, essv5159224, essv5039239, essv5047397, essv5030149, essv5076773, essv5144514, essv5005263, essv5131196, essv5152338, essv5076756, essv5087631, essv5112800, essv5155895, essv5019879, essv5081369, essv5050554, essv5071701, essv5081680, essv5113149, essv5059808, essv5025375, essv5039644, essv5107223, essv5104497, essv5108574, essv5051192, essv5152027, essv5106244, essv5070860, essv5091526, essv5103323, essv5019316, essv5070897, essv5087733, essv5033524, essv5118073, essv5104491, essv5061387, essv5082054, essv5120179, essv5022351, essv5023073, essv5059220, essv5145394, essv5018560, essv5044304, essv5050088, essv5022074, essv5131660, essv5083737, essv5104726, essv5150319, essv5087779, essv5153074, essv5065346, essv5081853, essv5115101, essv5073936, essv5148157, essv5128946, essv5019233, essv5093688, essv5128287, essv5098091, essv5026330, essv5023537, essv5026196, essv5050013, essv5136813, essv5018399, essv5074539, essv5058236, essv5065924, essv5075365, essv5062712, essv5077879, essv5097178, essv5153743, essv5049744, essv5117886, essv5156027, essv5072193, essv5155850, essv5025956, essv5081004, essv5109020, essv5141594, essv5027566, essv5136004, essv5151215, essv5100342, essv5021938, essv5117673, essv5141990, essv5149254, essv5065294, essv5048381, essv5070239, essv5004473, essv5058877, essv5098777, essv5028960, essv5013480, essv5145309, essv5102485, essv5057760, essv5042494, essv5044833, essv5161181, essv5120861, essv5160798, essv5030238, essv5080285, essv5109252, essv5098943, essv5041024, essv5083094, essv5029932, essv5097135, essv5086795, essv5127960, essv5129622, essv5054778, essv5072374, essv5155037, essv5044400, essv5061987, essv5038867, essv5012625, essv5091584, essv5094486, essv5076056, essv5131988, essv5066576, essv5108135, essv5144483, essv5045204, essv5081302, essv5011419, essv5104737, essv5105300, essv5113913, essv5136888, essv5005452, essv5092452, essv5044862, essv5142770, essv5010162, essv5091486, essv5031403, essv5119605, essv5124399, essv5007611, essv5109747, essv5027532, essv5034775, essv5097496, essv5144460, essv5081569, essv5148257, essv5067209, essv5006693, essv5005595, essv5032130
SamplesNA10859, NA18642, NA17989, NA18503, NA19207, NA19248, NA12154, NA21723, NA18160, NA18951, NA18871, NA19665, NA20907, NA12286, NA19081, NA12801, NA21320, NA20851, NA18757, NA21447, NA12347, NA19120, NA20544, NA19178, NA20796, NA21685, NA17982, NA21718, NA18516, NA12707, NA19788, NA20800, NA17981, NA18953, NA18947, NA21825, NA18161, NA20894, NA21415, NA17969, NA18546, NA07348, NA10853, NA18507, NA21425, NA20805, NA21312, NA20861, NA21361, NA18156, NA19701, NA19180, NA19236, NA21611, NA20853, NA18862, NA18139, NA19140, NA21090, NA20505, NA11919, NA12763, NA19239, NA19650, NA21111, NA18627, NA11839, NA11840, NA19076, NA18114, NA18154, NA19199, NA18150, NA18635, NA18623, NA19471, NA18990, NA18143, NA18636, NA18592, NA19083, NA19088, NA12273, NA12761, NA18956, NA21513, NA18959, NA18609, NA21116, NA21119, NA21647, NA11843, NA17977, NA19985, NA11831, NA18485, NA11894, NA18637, NA18593, NA19181, NA21451, NA19457, NA12234, NA19086, NA21399, NA12144, NA19190, NA21491, NA19000, NA19055, NA21442, NA19721, NA18144, NA19360, NA12239, NA18149, NA18640, NA18696, NA18515, NA17966, NA19372, NA18633, NA20760, NA12778, NA12348, NA12877, NA21339, NA19102, NA20884, NA12275, NA18510, NA18674, NA18106, NA19002, NA19154, NA17967, NA21485, NA19763, NA11892, NA18925, NA19001, NA10836, NA20766, NA18136, NA18910, NA21092, NA19711, NA18940, NA21101, NA18619, NA12146, NA19921, NA21378, NA19376, NA19723, NA20276, NA20302, NA06991, NA18740, NA12812, NA19009, NA20850, NA17975, NA21509, NA19116, NA18631, NA20337, NA21360, NA20287, NA19097, NA19132, NA07022, NA21086, NA19778, NA21089, NA18548, NA11830, NA20810, NA17976, NA18944, NA18689, NA21436, NA19198, NA18610, NA12045, NA10840, NA11829, NA19130, NA19240, NA21355, NA18555, NA19385, NA21573, NA19466, NA21494, NA21768, NA10854, NA10861, NA21526, NA07435, NA19137, NA19183, NA12827, NA19714, NA18964, NA19445, NA19796, NA21490, NA11930, NA12344, NA18158, NA07037, NA20349, NA20859, NA20785, NA20866, NA20506, NA18117, NA18952, NA18975, NA18874, NA12875, NA18148, NA21599, NA18612, NA20343, NA21307, NA20508, NA17990, NA18550, NA19748, NA19455, NA18639, NA20802, NA20881, NA18124, NA18948, NA19670, NA19317, NA12813, NA21435, NA19203, NA19751, NA19451, NA18969, NA18972, NA20816, NA19718, NA20529, NA19010, NA18573, NA18608, NA21403, NA20778, NA20786, NA21479, NA18542, NA19184, NA19782, NA21371, NA21386, NA18702, NA21098, NA18484, NA20900, NA21385, NA19834, NA19983, NA20588, NA20363, NA18157, NA19656, NA21457, NA18109, NA18524, NA21295, NA18965, NA21489, NA17979, NA18488, NA18682, NA18704, NA19084, NA19780, NA12341, NA12376, NA19308, NA19467, NA21368, NA18506, NA18873, NA19147, NA18626, NA19776, NA19226, NA21528, NA19654, NA20586, NA21400, NA10863, NA18632, NA20770, NA12865, NA21106, NA19762, NA21314, NA18559, NA11882, NA20761, NA18670, NA17986, NA17997, NA19067, NA19161, NA19428, NA18912, NA19383, NA19982, NA20854, NA21309, NA21577, NA18998, NA20885, NA18624, NA18508, NA19054, NA12056, NA19059, NA20819, NA21686, NA12282, NA20515, NA21088, NA19652, NA12336, NA19662, NA18566, NA18957, NA11994, NA19057, NA19068, NA19660, NA21716, NA12155, NA18576, NA18960, NA12864, NA18563, NA18618, NA21421, NA07357, NA20757, NA19722, NA18162, NA12873, NA21301, NA12343, NA18118, NA18991, NA20807, NA12814, NA19396, NA20754, NA12740, NA21582, NA19397, NA21359, NA18638, NA19398, NA19440, NA19066, NA21453, NA21683, NA20541, NA19774, NA21477, NA18140, NA19182, NA20364, NA21523, NA18976, NA21522, NA18973, NA20336, NA19773, NA19681, NA19663, NA12830, NA21144, NA18634, NA18643, NA18970, NA19684, NA19919, NA20773, NA21115, NA12006, NA19213, NA19676, NA19790, NA07045, NA19153, NA21143, NA18518, NA18537, NA18620, NA19122, NA18135, NA18645, NA19702, NA19759, NA07014, NA12892, NA18572, NA18954, NA21311, NA19375, NA20126, NA17972, NA18685, NA20512, NA21717, NA18498, NA19784, NA20826, NA06986, NA19238, NA18875, NA20334, NA20344, NA19657, NA18151, NA19713, NA21739, NA18558, NA18977, NA21574, NA18102, NA18749, NA19901, NA10850, NA12057, NA18155, NA21648, NA12872, NA18504, NA18748, NA19175, NA19836, NA20350, NA21619, NA18487, NA18564, NA18942, NA20774, NA19332, NA18613, NA18997, NA21475, NA18107, NA18562, NA19074, NA19131, NA19159, NA17996, NA18125, NA19382, NA17987, NA18579, NA19307, NA18974, NA21440, NA18945, NA19902, NA20360, NA21313, NA18159, NA18543, NA21103, NA21401, NA21486, NA18582, NA18999, NA20581, NA12739, NA18552, NA19038, NA20534, NA21521, NA18599, NA18955, NA20357, NA18911, NA21420, NA19078, NA12749, NA18995, NA20332, NA20799, NA06984, NA19403, NA21601, NA12375, NA19683, NA18133, NA12386, NA06995, NA10835, NA18129, NA17980, NA21402, NA18971, NA10830, NA18602, NA18577, NA19099, NA20509, NA21519, NA18146, NA19649, NA19452, NA21620, NA18141, NA18946, NA19064, NA19781, NA20846, NA19041, NA19063, NA19327, NA21117, NA18917, NA11993, NA12399, NA19399, NA20812, NA12842, NA21583, NA19179, NA19772, NA12817, NA19070, NA19118, NA21356, NA18611, NA19095, NA20768, NA20528, NA17968, NA19381, NA20524, NA06994, NA20870, NA21391, NA18913, NA12760, NA17965, NA19448, NA20502, NA20517, NA20772, NA20538, NA12335, NA19750, NA19007, NA20519, NA21365, NA17974, NA19065, NA07000, NA19058, NA18980, NA07031, NA21617, NA12767, NA11881, NA18621, NA20903, NA21417, NA12489, NA18605, NA21438, NA20787, NA19031, NA19214, NA19712, NA21441, NA18509, NA18520, NA18595, NA18616, NA20771, NA19904, NA18594, NA20527, NA18534, NA20862, NA21473, NA18630, NA21693, NA12342, NA19114, NA18966, NA11920, NA19677, NA18526, NA10839, NA20531, NA19191, NA21575, NA20888, NA12815, NA10847, NA18545, NA18603, NA19319, NA18153, NA20759, NA19359, NA17998, NA18128, NA06993, NA18529, NA18134, NA20889, NA20909, NA19449, NA19379, NA20319, NA18127, NA18994, NA20897, NA18963, NA19686, NA07029, NA19651, NA21454, NA10837, NA19682, NA17962, NA18557, NA18745, NA20755, NA18943, NA19761, NA18596, NA18949, NA19143, NA20340, NA17993, NA19077, NA19062, NA20284, NA19046, NA18979, NA19085, NA18967, NA19148, NA19314, NA20849, NA12753, NA19390, NA21493, NA19917, NA20811, 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Known GenesACOT1, HEATR4
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421969
Frequency
Sample Size1184
Observed Gain7
Observed Loss807
Observed Complex0
Frequencyn/a


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