A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421412



Internal ID7905174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348064..46481604hg38UCSC Ensembl
Innerchr17:44425430..44558970hg19UCSC Ensembl
Innerchr17:41781186..41914286hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133541
hg19133541
hg18133101
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5131874, essv5118430, essv5137393, essv5107199, essv5107864, essv5119946, essv5052951, essv5118553, essv5034165, essv5154120, essv5158413, essv5026899, essv5044222, essv5109946, essv5151658, essv5030615, essv5015454, essv5024052, essv5109246, essv5024476, essv5143552, essv5009539, essv5079952, essv5021356, essv5050574, essv5079842, essv5045143, essv5156006, essv5160938, essv5064621, essv5006416, essv5135380, essv5130712, essv5028372, essv5081590, essv5014797, essv5098307, essv5108891, essv5052889, essv5036469, essv5137747, essv5080163, essv5015146, essv5016164, essv5029946, essv5130703, essv5132074, essv5002220, essv5007600, essv5022142, essv5116189, essv5133953, essv5005113, essv5049460, essv5049909, essv5057829, essv5111688, essv5030034, essv5089706, essv5138920, essv5093519, essv5063771, essv5055305, essv5024645, essv5017548, essv5131847, essv5147770, essv5150356, essv5141887, essv5010870, essv5112191, essv5116173, essv5121235, essv5159200, essv5026340, essv5099707, essv5126765, essv5009253, essv5147866, essv5031979, essv5063595, essv5004037, essv5059534, essv5106273, essv5115788, essv5149009, essv5127306, essv5007649, essv5130048, essv5128192, essv5072919, essv5055741, essv5090892, essv5056006, essv5097829, essv5050414, essv5134830, essv5117682, essv5079823, essv5104502, essv5099378, essv5043017, essv5098215, essv5109584, essv5141599, essv5017431, essv5139537, essv5068484, essv5140624, essv5127766, essv5079130, essv5036626, essv5004250, essv5020128, essv5130108, essv5027308, essv5153692, essv5061081, essv5104180, essv5130936, essv5087739, essv5064789, essv5050180, essv5093958, essv5021466, essv5068435, essv5114885, essv5075432, essv5078172, essv5117273, essv5077258, essv5111086, essv5006623, essv5024526, essv5101916, essv5121162, essv5080661, essv5114098, essv5061445, essv5143872, essv5024093, essv5017267, essv5078604, essv5151361, essv5090242, essv5145972, essv5046869, essv5004421, essv5103801, essv5154059, essv5051785, essv5060652, essv5076944, essv5125857, essv5005527, essv5045882, essv5079691, essv5020753, essv5156419, essv5013309, essv5082274, essv5073474, essv5102251, essv5067465, essv5078232, essv5082580, essv5143135, essv5058772, essv5087887, essv5102071, essv5031547, essv5057625, essv5145701, essv5155801, essv5073158, essv5079915, essv5132480, essv5002107, essv5005257, essv5056330, essv5115102, essv5041679, essv5053758, essv5035841, essv5082483, essv5092411, essv5069770, essv5109924, essv5123636, essv5135371, essv5108607, essv5150862, essv5088824, essv5095355, essv5140345, essv5150045, essv5054346, essv5076039, essv5042822, essv5126160, essv5154029, essv5143341, essv5008164, essv5020662, essv5125519, essv5051569, essv5010155, essv5063914, essv5035393, essv5125196, essv5127679, essv5121623, essv5013022, essv5155826, essv5107329, essv5123807, essv5134020, essv5014166, essv5022319, essv5034157, essv5110870, essv5155684, essv5032854, essv5025052, essv5094775, essv5133879, essv5150431, essv5136372, essv5029583, essv5053283, essv5061259, essv5051702, essv5046133, essv5057884, essv5131007, essv5159125, essv5070107, essv5082300, essv5107826, essv5126610, essv5056905, essv5041845, essv5159673, essv5005051, essv5029002, essv5038659, essv5040810, essv5110971, essv5037647, essv5089118, essv5123310, essv5075665, essv5089417, essv5106643, essv5042544, essv5015774, essv5016214, essv5086864, essv5156730, essv5124200, essv5131353, essv5020564, essv5141580, essv5155445, essv5020053, essv5051047, essv5072688, essv5074559, essv5147223, essv5037792, essv5160373, essv5020576, essv5040255, essv5087776, essv5139643, essv5130530, essv5005989, essv5057804, essv5098951, essv5011548, essv5112024, essv5100210, essv5076118, essv5153832, essv5129410, essv5079858, essv5091230, essv5041326, essv5160908, essv5025645, essv5111514, essv5158970, essv5007497, essv5024288, essv5068189, essv5096704, essv5118204, essv5143240, essv5105950, essv5049716, essv5008586, essv5067248, essv5070134, essv5012859, essv5119263, essv5087972, essv5038158, essv5106972, essv5129471, essv5157257, essv5031238, essv5038067, essv5068975, essv5087373, essv5072412, essv5117820, essv5131858, essv5139661, essv5007251, essv5005454, essv5006821, essv5045861, essv5064981, essv5091226, essv5027908, essv5088198, essv5052308, essv5097528, essv5150649, essv5029986, essv5010258, essv5129326, essv5030377, essv5076678, essv5141959, essv5154227, essv5046378, essv5030231, essv5148917, essv5017089, essv5156286, essv5086037, essv5031862, essv5044471, essv5073842, essv5043704, essv5094109, essv5111229, essv5088551, essv5067146, essv5092546, essv5014514, essv5076140, essv5154331, essv5158728, essv5105414, essv5034016, essv5150831, essv5049450, essv5063020, essv5041877, essv5027160, essv5150253, essv5049605, essv5061769, essv5106557, essv5037176, essv5103860, essv5017312, essv5028733, essv5041496, essv5063065, essv5082107, essv5129967, essv5069286, essv5026736, essv5078201, essv5040504, essv5077786, essv5140063, essv5012129, essv5064497, essv5049533, essv5107044, essv5121993, essv5029061, essv5136055, essv5062471, essv5113824, essv5136420, essv5127224, essv5046259, essv5026958, essv5142293, essv5111492, essv5118785, essv5031567, essv5105359, essv5102216, essv5031265, essv5025723, essv5121898, essv5016796, essv5149904, essv5056889, essv5109002, essv5139001, essv5033817, essv5041841, essv5071582, essv5009659, essv5153346, essv5010893, essv5084040, essv5014894, essv5096128, essv5024107, essv5074989, essv5154649, essv5158093, essv5023007, essv5061967, essv5068492, essv5110056, essv5135101, essv5098424, essv5138957, essv5154586, essv5076511, essv5085808, essv5087312, essv5020670, essv5062551, essv5025660, essv5109383, essv5111141, essv5026388, essv5038310, essv5113856, essv5159370, essv5109212, essv5029604, essv5064876, essv5014349, essv5050316, essv5103128, essv5026514, essv5013283, essv5104237, essv5114931, essv5015875, essv5048194, essv5120325, essv5094277, essv5010176, essv5012655, essv5125779, essv5056467, essv5137082, essv5043751, essv5146372, essv5016737, essv5017384, essv5114593, essv5155808, essv5112840, essv5012390, essv5024244, essv5136843, essv5154933, essv5002120, essv5071140, essv5075037, essv5087685, essv5089664, essv5053891, essv5064276, essv5029537, essv5101778, essv5028065, essv5050981, essv5145190, essv5031541, essv5089887, essv5091837, essv5144629, essv5043879, essv5152871, essv5015609, essv5022772, essv5152712, essv5151760, essv5109414, essv5018897, essv5031598, essv5108969, essv5152977, essv5063025, essv5073367, essv5067232, essv5084100, essv5129526, essv5148780, essv5048440, essv5072027, essv5103200, essv5015756, essv5135087, essv5016532, essv5031868, essv5041963, essv5054411, essv5048600, essv5072265, essv5041456, essv5073795, essv5122119, essv5010031, essv5145195, essv5014487, essv5085341, essv5100939, essv5157773, essv5047200, essv5134853, essv5019630, essv5071932, essv5008815, essv5144810, essv5066520, essv5076762, essv5046350, essv5009872, essv5080994, essv5034369, essv5069176, essv5013082, essv5092913, essv5048669, essv5049047, essv5009745, essv5122282, essv5082446, essv5098535, essv5101214, essv5009018, essv5152214, essv5013675, essv5075740, essv5097056, essv5118515, essv5144258, essv5084163, essv5068654, essv5091798, essv5009565, essv5097163, essv5140792, essv5048426, essv5108877, essv5120836, essv5123480, essv5127544, essv5132841, essv5145730, essv5148637, essv5029420, essv5102688, essv5064490, essv5072377, essv5029608, essv5145250, essv5152273, essv5036725, essv5023390, essv5028678, essv5006331, essv5111287, essv5157852, essv5145741, essv5053065, essv5145011, essv5126419, essv5038440, essv5039607, essv5118548, essv5044714, essv5152981, essv5150338, essv5018957, essv5029724, essv5034928, essv5105335, essv5149582, essv5099779, essv5127275, essv5129692, essv5134125, essv5149925, essv5052731, essv5033443, essv5157815, essv5052058, essv5134897, essv5069943, essv5073371, essv5048609, essv5035930, essv5095046, essv5095769, essv5071976, essv5106705, essv5140625, essv5006376, essv5082377, essv5131055, essv5039541, essv5035124, essv5077005, essv5125889, essv5154676, essv5109204, essv5105874, essv5070631, essv5125100, essv5042341, essv5086842, essv5089165, essv5070514, essv5011039, essv5072435, essv5099238, essv5014230, essv5028684, essv5039726, essv5121857, essv5054889, essv5062036, essv5155032, essv5052935, essv5025901, essv5120287, essv5108509, essv5124149, essv5117448, essv5045262, essv5140012, essv5042080, essv5008256, essv5139952, essv5145662, essv5027134, essv5015364, essv5085073, essv5150922, essv5002146, essv5100176, essv5035688, essv5005713, essv5069428, essv5042793, essv5073278, essv5075472, essv5026231, essv5133163, essv5034293, essv5050360, essv5031584, essv5004728, essv5124717, essv5147732, essv5071455, essv5050778, essv5112493, essv5153107, essv5143582, essv5070822, essv5074443, essv5099712, essv5022081, essv5094921, essv5123557, essv5068310, essv5024915, essv5023425, essv5027677, essv5012397, essv5075795, essv5094159, essv5015310, essv5015645, essv5071714, essv5075674, essv5020294, essv5031239, essv5099405, essv5118141, essv5135125, essv5012520, essv5046998, essv5149066, essv5003614
SamplesNA17989, NA18503, NA21634, NA19207, NA12154, NA12818, NA18160, NA19192, NA21631, NA20907, NA07349, NA12801, NA20752, NA21320, NA20851, NA18757, NA21447, NA19120, NA20544, NA19178, NA11918, NA19469, NA17982, NA21718, NA12707, NA19334, NA19788, NA18953, NA18517, NA18947, NA18161, NA20292, NA21415, NA17969, NA19144, NA18546, NA07348, NA10853, NA18507, NA19760, NA10855, NA21357, NA20805, NA19685, NA11891, NA19257, NA20845, NA21312, NA20861, NA19236, NA12766, NA18505, NA19151, NA20853, NA18862, NA18868, NA21090, NA20505, NA20856, NA11919, NA12763, NA19650, NA18627, NA11839, NA11840, NA19076, NA18114, NA18154, NA19199, NA19197, NA19443, NA18623, NA19107, NA19444, NA18143, NA18636, NA18592, NA19083, NA19096, NA21363, NA12273, NA18956, NA19429, NA21513, NA18959, NA17977, NA19985, NA18485, NA11894, NA12400, NA18637, NA18593, NA19181, NA19457, NA21399, NA19324, NA19190, NA21491, NA19000, NA19055, NA19721, NA18144, NA19360, NA19725, NA20128, NA12239, NA18149, NA18640, NA18696, NA17966, NA19372, NA18633, NA19680, NA21316, NA12778, NA21339, NA19102, NA20884, NA12275, NA18510, NA18674, NA21379, NA19215, NA18106, NA19002, NA19154, NA17967, NA21485, NA11892, NA19001, NA20542, NA10836, NA20766, NA18136, NA18910, NA19711, NA18940, NA21101, NA12891, NA18619, NA18987, NA20525, NA18597, NA19921, NA07055, NA19376, NA21632, NA12272, NA21476, NA19794, NA21682, NA18909, NA19391, NA18152, NA19201, NA21439, NA20276, NA20302, NA21510, NA06991, NA18740, NA12413, NA19128, NA12812, NA18857, NA19009, NA17975, NA21109, NA21509, NA20873, NA21733, NA19431, NA21360, NA19123, NA20289, NA20287, NA18544, NA19755, NA21480, NA21576, NA12878, NA18147, NA21086, NA19778, NA21362, NA11830, NA20810, NA17976, NA19225, NA12546, NA18689, NA20869, NA21722, NA12248, NA20288, NA18924, NA20359, NA20543, NA19198, NA20758, NA20872, NA19315, NA20792, NA18108, NA11829, NA19240, NA19346, NA12874, NA18112, NA19113, NA18981, NA20804, NA20806, NA18615, NA12832, NA19087, NA18555, NA21573, NA19661, NA19724, NA17995, NA19202, NA19466, NA19746, NA10864, NA19659, NA21494, NA21768, NA10854, NA18962, NA10861, NA07435, NA19142, NA18166, NA20281, NA19137, NA10831, NA12827, NA19714, NA18964, NA21520, NA18647, NA20887, NA12043, NA19152, NA19625, NA19796, NA10865, NA12249, NA21741, NA21142, NA20874, NA10843, NA11930, NA07037, NA17983, NA19321, NA20522, NA20890, NA18101, NA20809, NA21524, NA20859, NA12802, NA21367, NA19222, NA20866, NA21678, NA18561, NA18933, NA19404, NA18117, NA18975, NA21776, NA07056, NA12875, NA20906, NA18148, NA21123, NA21599, NA18612, NA19310, NA19783, NA18500, NA21307, NA20508, NA17990, NA19060, NA19149, NA21404, NA18550, NA19072, NA21600, NA06989, NA18639, NA20294, NA21487, NA18124, NA18948, NA19430, NA19670, NA19317, NA19751, NA19718, NA20529, NA19010, NA19150, NA18608, NA21403, NA20778, NA21479, NA18542, NA19184, NA19782, NA21386, NA18702, NA21098, NA18484, NA19210, NA19834, NA19983, NA20588, NA12776, NA18157, NA21457, NA18524, NA19108, NA21295, NA17979, NA18488, NA18682, NA19474, NA12341, NA12044, NA19308, NA19467, NA21368, NA18506, NA18873, NA20883, NA18626, NA19776, NA20295, NA19226, NA19438, NA21528, NA19654, NA21400, NA18632, NA20770, NA12865, NA21106, NA19762, NA21314, NA18559, NA19726, NA19914, NA20761, NA19428, NA19982, NA20854, NA21309, NA21577, NA12843, NA18998, NA20885, NA18624, NA18934, NA18508, NA19054, NA21108, NA21137, NA21686, NA12282, NA20356, NA20515, NA21088, NA12336, NA19662, NA18566, NA18957, NA19057, NA19068, NA19660, NA18576, NA18618, NA19900, NA20504, NA20908, NA12873, NA20783, NA18118, NA18991, NA20801, NA12814, NA20754, NA21359, NA21587, NA18638, NA19440, NA19066, NA20882, NA21523, NA18976, NA21522, NA18973, NA19835, NA20282, NA19773, NA19658, NA19681, NA19056, NA19679, NA12830, NA21650, NA18634, NA20589, NA20773, NA12006, NA19213, NA19676, NA19790, NA20901, NA21740, NA18518, NA18620, NA19122, NA18135, NA18645, NA19172, NA19759, NA07014, NA21333, NA12892, NA18572, NA19703, NA21311, NA19094, NA19375, NA20126, NA18685, NA19103, NA06985, NA18923, NA20826, NA19238, NA18132, NA20334, NA19657, NA19713, NA20540, NA18977, NA18102, NA18749, NA12057, NA18504, NA18748, NA19704, NA21381, NA21619, NA18487, NA18564, NA18858, NA18942, NA19347, NA20774, NA20828, NA19909, NA20582, NA19221, NA21370, NA21475, NA18562, NA19074, NA19159, NA17996, NA19382, NA21616, NA17987, NA18579, NA19307, NA18974, NA21440, NA19462, NA20879, NA18945, NA19902, NA20891, NA21313, NA18159, NA18543, NA20858, NA21401, NA19258, NA20297, NA21486, NA18999, NA12739, NA18552, NA19038, NA20534, NA21635, NA18599, NA18955, NA20357, NA18911, NA19101, NA19078, NA12749, NA18995, NA21344, NA06984, NA18867, NA19394, NA12375, NA18872, NA19683, NA18133, NA12386, NA06995, NA21389, NA10835, NA18129, NA17980, NA19719, NA21402, NA18971, NA18577, NA19446, NA20509, NA21519, NA19649, NA20300, NA19452, NA21620, NA18141, NA18946, NA19064, NA20846, NA19749, NA19063, NA10838, NA11993, NA12399, NA21405, NA19160, NA18571, NA19916, NA19070, NA21356, NA20768, NA17968, NA21105, NA18935, NA21614, NA19079, NA19473, NA20524, NA06994, NA20870, NA21391, NA18913, NA12760, NA20502, NA20772, NA20538, NA12335, NA19750, NA21365, NA17974, NA19065, NA20899, NA07000, NA19058, NA18980, NA12767, NA20903, NA19127, NA19194, NA18605, NA20787, NA19214, NA19712, NA21441, NA18509, NA18520, NA18595, NA18616, NA21353, NA21390, NA18594, NA20527, NA18534, NA20862, NA21113, NA21473, NA18630, NA21297, NA19819, NA12342, NA19437, NA19114, NA18966, NA20510, NA19677, NA10839, NA20531, NA20888, NA12815, NA18545, NA18603, NA19359, NA19186, NA18128, NA20902, NA06993, NA21423, NA21300, NA19795, NA18134, NA20889, NA20909, NA19449, NA18489, NA19379, NA18127, NA18994, NA18963, NA07051, NA20277, NA21454, NA19915, NA17962, NA18557, NA18745, NA20755, NA18943, NA19761, NA18596, NA18628, NA18949, NA17993, NA19062, NA20284, NA19085, NA19314, NA20849, NA12753, NA19390, NA21493, NA20811, NA21488, NA18536, NA18622, NA19828, NA07345, NA18617, NA18641, NA19908, NA10852, NA18138, NA18916, NA21738, NA19036, NA12777, NA19700, NA20341, NA12751, NA21826, NA20769, NA19247, NA19380, NA12145, NA19080, NA12716, NA19129, NA19671, NA19771, NA21525, NA17988, NA18120, NA19384, NA20790, NA21388, NA18131, NA18968, NA20852, NA19119, NA19176, NA19708, NA10856, NA18961, NA19237, NA20815, NA20797, NA19720, NA18694, NA21100, NA20129, NA20813, NA19789, NA19141
Known GenesARL17A, ARL17B, NSFP1
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)esv2421412
Frequency
Sample Size1184
Observed Gain443
Observed Loss259
Observed Complex0
Frequencyn/a


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