A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421786



Internal ID7905548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23547272..23550392hg38UCSC Ensembl
Innerchr8:23404785..23407905hg19UCSC Ensembl
Innerchr8:23460730..23463850hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383121
hg193121
hg183121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5074313, essv5143269, essv5109358, essv5098974, essv5081764, essv5085427, essv5079468, essv5126994, essv5113329, essv5074720, essv5066417, essv5088106, essv5066146, essv5120538, essv5064894, essv5145638, essv5135934, essv5104307, essv5041218, essv5110348, essv5008876, essv5055241, essv5034670, essv5048401, essv5157989, essv5054235, essv5130826, essv5141148, essv5080466, essv5033445, essv5083311, essv5151212, essv5126035, essv5097137, essv5022997, essv5094286, essv5044909, essv5158923, essv5025811, essv5079528, essv5046931, essv5153727, essv5101678, essv5153141, essv5013153, essv5144845, essv5121638, essv5156705, essv5110902, essv5158418, essv5131025, essv5031105, essv5160040, essv5116537, essv5078038, essv5134100, essv5005759, essv5093279, essv5136142, essv5074983, essv5089689, essv5148232, essv5144227, essv5117915, essv5123641, essv5029347, essv5131815, essv5062469, essv5059833, essv5059347, essv5031054, essv5020415, essv5103704, essv5144159, essv5094309, essv5062141, essv5037117, essv5124802, essv5087454, essv5144768, essv5153328, essv5097278, essv5151701, essv5125511, essv5156037, essv5128589, essv5102095, essv5021280, essv5030219, essv5003238, essv5083011, essv5012963, essv5118662, essv5104404, essv5073918, essv5137345, essv5144823, essv5098757, essv5067905, essv5061028, essv5019592, essv5147118, essv5133920, essv5016962, essv5009978, essv5140005, essv5123483, essv5046147, essv5129058, essv5048761, essv5102016, essv5044491, essv5130673, essv5042601, essv5005831, essv5139134, essv5070722, essv5117941, essv5035852, essv5014055, essv5105745, essv5130608, essv5128570, essv5124218, essv5093557, essv5140137, essv5043541, essv5028814, essv5026921, essv5035665, essv5135636, essv5037248, essv5010782, essv5067718, essv5047213, essv5154048, essv5071125, essv5144462, essv5121188, essv5072709, essv5050230, essv5015618, essv5094325, essv5114958, essv5158443, essv5129708, essv5089182, essv5037846, essv5097079, essv5096399, essv5095939, essv5100954, essv5069054, essv5157906, essv5017534, essv5024670, essv5124542, essv5085902, essv5068962, essv5060887, essv5031411, essv5003317, essv5107858, essv5150450, essv5074671, essv5076070, essv5029523, essv5089596, essv5112688, essv5047307, essv5150927, essv5108729, essv5050894, essv5145564, essv5093707, essv5064347, essv5126152, essv5063354, essv5033081, essv5131275, essv5116566, essv5097084, essv5006059, essv5135357, essv5023870, essv5011839, essv5153473, essv5100737, essv5081554, essv5122345, essv5053553, essv5121390, essv5125263, essv5130558, essv5029692, essv5156180, essv5144259, essv5078427, essv5082786, essv5062845, essv5116407, essv5082179, essv5090664, essv5086923, essv5030275, essv5032349, essv5022669, essv5012092, essv5093895, essv5033479, essv5063946, essv5160211, essv5126736, essv5096784, essv5156911, essv5127453, essv5099842, essv5044045, essv5032488, essv5019551, essv5031886, essv5068662, essv5106981, essv5060084, essv5135930, essv5121375, essv5038436, essv5123791, essv5042711, essv5043274, essv5118357, essv5013409, essv5064300, essv5039884, essv5140805, essv5036765, essv5072751, essv5009917, essv5089899, essv5065067, essv5125595, essv5152325, essv5105080, essv5050731, essv5065158, essv5060575, essv5111215, essv5145964, essv5072785, essv5014274, essv5014338, essv5159382, essv5138056, essv5005899, essv5148033, essv5042063, essv5092261, essv5131150, essv5121373, essv5030797, essv5129088, essv5099827, essv5031826, essv5105326, essv5144256, essv5045487, essv5071252, essv5025691, essv5099342, essv5158226, essv5104303, essv5146844, essv5091108, essv5035356, essv5010383, essv5139717, essv5004333, essv5134459, essv5024649, essv5017178, essv5064057, essv5137347, essv5065883, essv5034029, essv5096568, essv5019994, essv5002353, essv5050658, essv5029989, essv5062468, essv5035488, essv5149058, essv5015576, essv5019328, essv5155045, essv5056167, essv5052335, essv5020956, essv5010510, essv5003052, essv5091231, essv5048543, essv5135763, essv5142681, essv5057074, essv5137016, essv5116397, essv5022813, essv5076818, essv5079964, essv5064186, essv5027925, essv5091797, essv5141315, essv5125820, essv5043073, essv5012657, essv5010329, essv5054909, essv5012399, essv5137596, essv5037525, essv5022125, essv5152750, essv5054757, essv5133895, essv5148091, essv5126154, essv5153117, essv5020992, essv5011918, essv5067243, essv5091005, essv5094148, essv5048624, essv5045954, essv5149965, essv5131579, essv5156173, essv5126159, essv5123177, essv5126609, essv5025005, essv5160381, essv5105905, essv5048494, essv5023315, essv5009625, essv5157068, essv5063221, essv5082195, essv5114044, essv5113979, essv5061410, essv5107130, essv5084844, essv5014745, essv5068926, essv5004984, essv5039141, essv5119971, essv5066103, essv5144436, essv5151632, essv5154268, essv5159894, essv5138383, essv5069931, essv5014163, essv5049198, essv5035546, essv5033928, essv5090096, essv5023435, essv5108734, essv5100319, essv5094907, essv5136597, essv5116150, essv5057555, essv5053786, essv5158361, essv5028545, essv5152039, essv5049963, essv5053045, essv5034830, essv5058681, essv5137218, essv5055672, essv5103696, essv5058120, essv5057632, essv5155449, essv5010117, essv5121261, essv5039868, essv5078337, essv5005644, essv5133522, essv5128281, essv5082431, essv5012996, essv5127672, essv5118830, essv5040201, essv5147289, essv5145656, essv5138648, essv5070296, essv5095332, essv5086723, essv5080407, essv5079980, essv5055512, essv5029893, essv5065835, essv5068792, essv5045816, essv5002147, essv5128114, essv5122274, essv5014873, essv5045000, essv5124059, essv5038298, essv5017975, essv5075536, essv5062566, essv5035998, essv5015449, essv5051980, essv5154460, essv5132448, essv5066486, essv5144969, essv5064113, essv5025749, essv5143437, essv5145483, essv5127089, essv5079393, essv5088452, essv5049242, essv5006545, essv5091771, essv5043156, essv5043636, essv5068885, essv5130568, essv5122373, essv5036446, essv5056771, essv5138834, essv5137323, essv5085411, essv5142629, essv5120284, essv5128033, essv5132821, essv5064055, essv5049766, essv5147015, essv5011161, essv5114782, essv5086817, essv5124963, essv5020887, essv5093152, essv5052440, essv5122607, essv5094425, essv5148583, essv5101978, essv5008148, essv5063203, essv5131744, essv5126640, essv5158540, essv5079037, essv5035573, essv5011005, essv5131541, essv5109542, essv5096725, essv5038723, essv5158802, essv5139225, essv5125257, essv5066528, essv5072041, essv5061633, essv5082033, essv5089823, essv5117687, essv5092406, essv5007000, essv5147521, essv5074165, essv5039451, essv5031680, essv5024134, essv5104942, essv5055151, essv5154408, essv5083226, essv5066492, essv5018405, essv5092267, essv5109912, essv5115466, essv5098426, essv5012947, essv5004561, essv5117861, essv5037592, essv5080274, essv5041617, essv5103811, essv5154032, essv5012001, essv5011239, essv5109842, essv5153655, essv5109300, essv5142193, essv5044568, essv5039313, essv5008308, essv5131838, essv5075580, essv5149195, essv5126611, essv5108809, essv5019565, essv5050393, essv5025112, essv5128514, essv5047826, essv5035338, essv5021462, essv5006311, essv5137847, essv5040444, essv5054597, essv5063666, essv5137768, essv5068846, essv5039187, essv5068454, essv5032219, essv5020321, essv5015857, essv5073730, essv5096687, essv5007622, essv5069082, essv5072357, essv5149182, essv5130572, essv5109279, essv5057148, essv5008774, essv5151838, essv5128031, essv5033289, essv5038514, essv5028929, essv5072597, essv5093307, essv5051405, essv5107860, essv5025152, essv5152868, essv5101282, essv5121120, essv5084916, essv5117544, essv5079935, essv5039719, essv5081041, essv5018098, essv5161096, essv5110609, essv5057919, essv5103982, essv5095011, essv5135120, essv5069554, essv5142107, essv5133696, essv5110212, essv5123060, essv5125072, essv5011467, essv5122061, essv5041182, essv5091984, essv5113074, essv5063173, essv5063031, essv5029863, essv5020654, essv5050340, essv5043609, essv5080133, essv5110063, essv5157042, essv5136068, essv5064464, essv5127454, essv5049446, essv5085619, essv5061265, essv5064429
SamplesNA19058, NA21317, NA20529, NA18647, NA19399, NA18524, NA11920, NA18979, NA21489, NA21457, NA17990, NA18504, NA21137, NA19684, NA19377, NA21475, NA21408, NA21738, NA21635, NA18633, NA20359, NA12750, NA19067, NA21434, NA19127, NA19192, NA19171, NA19379, NA21378, NA19315, NA20589, NA18995, NA18107, NA19191, NA18101, NA18993, NA18558, NA21297, NA18916, NA21479, NA19384, NA21613, NA20291, NA19079, NA18949, NA18868, NA19238, NA18160, NA19172, NA17993, NA19226, NA21523, NA19796, NA21357, NA21420, NA18102, NA21387, NA21400, NA18867, NA20515, NA18129, NA19921, NA20904, NA18951, NA21307, NA20892, NA18605, NA12760, NA21587, NA19120, NA21596, NA18674, NA18118, NA19184, NA19663, NA19176, NA20883, NA21631, NA18948, NA21438, NA20876, NA19064, NA18548, NA18537, NA19084, NA18875, NA19181, NA21295, NA18122, NA18532, NA19009, NA19452, NA21356, NA19318, NA10856, NA21309, NA19625, NA18593, NA21316, NA18108, NA20799, NA18114, NA19440, NA18702, NA19256, NA18517, NA19434, NA18564, NA21528, NA20870, NA21336, NA19444, NA21685, NA18128, NA21768, NA21718, NA19470, NA17970, NA20281, NA19360, NA18615, NA19778, NA19182, NA17995, NA19328, NA21435, NA19705, NA18631, NA18134, NA18609, NA18873, NA18138, NA21384, NA19121, NA19129, NA19044, NA21487, NA21491, NA19065, NA19429, NA19074, NA18487, NA20898, NA19431, NA18577, NA21403, NA18998, NA18497, NA20874, NA20284, NA19237, NA19700, NA21686, NA21477, NA19055, NA19794, NA18924, NA19466, NA18592, NA20292, NA18980, NA18166, NA21476, NA19763, NA19122, NA18561, NA19704, NA18507, NA21597, NA18599, NA17975, NA18641, NA17966, NA21717, NA19836, NA19190, NA19098, NA18962, NA19068, NA18550, NA18489, NA18595, NA21526, NA18635, NA18860, NA19916, NA18105, NA18942, NA19197, NA19313, NA19054, NA18498, NA21510, NA19038, NA12761, NA18749, NA21447, NA21382, NA20349, NA20340, NA19915, NA19371, NA21525, NA19075, NA18617, NA19471, NA19087, NA19159, NA21825, NA21716, NA19189, NA18520, NA21601, NA19209, NA12828, NA18973, NA18158, NA18638, NA20129, NA19007, NA18106, NA20524, NA12342, NA19077, NA19462, NA19347, NA12872, NA18859, NA19748, NA18991, NA19982, NA21439, NA18976, NA19097, NA20344, NA19776, NA19983, NA19221, NA18133, NA17977, NA20859, NA18518, NA18853, NA20282, NA19225, NA06985, NA21583, NA18536, NA19659, NA21521, NA18576, NA18978, NA19183, NA18162, NA19834, NA19108, NA18952, NA20295, NA18559, NA12864, NA21527, NA21733, NA21647, NA21517, NA19919, NA21619, NA21513, NA20341, NA19759, NA19376, NA19143, NA21379, NA19109, NA19248, NA19438, NA20582, NA19472, NA18987, NA19713, NA12830, NA18506, NA21486, NA21418, NA18149, NA18972, NA18552, NA21385, NA21303, NA18696, NA18505, NA19148, NA19046, NA19153, NA19394, NA18745, NA12383, NA19258, NA20761, NA18139, NA21524, NA21423, NA19909, NA19066, NA19204, NA18861, NA18508, NA12273, NA18855, NA18935, NA21352, NA17968, NA19350, NA18639, NA19359, NA20294, NA18925, NA18124, NA18959, NA18616, NA21301, NA20364, NA20356, NA21522, NA19107, NA17974, NA19373, NA17986, NA18940, NA18519, NA19319, NA17980, NA21520, NA18597, NA21473, NA19307, NA18923, NA19062, NA19457, NA21493, NA21353, NA21381, NA21365, NA20539, NA18159, NA19041, NA19199, NA21650, NA21529, NA19123, NA19215, NA19372, NA19207, NA17996, NA18689, NA19702, NA19128, NA18966, NA20889, NA18990, NA21689, NA19708, NA20127, NA21344, NA18704, NA19027, NA20301, NA18645, NA21415, NA17976, NA19908, NA12752, NA19194, NA18117, NA19161, NA18933, NA18694, NA18485, NA19455, NA21300, NA18579, NA18871, NA18534, NA20358, NA21366, NA19208, NA19202, NA19654, NA21308, NA18573, NA19150, NA17999, NA19151, NA18156, NA18930, NA19154, NA18857, NA19656, NA17965, NA18555, NA18127, NA18570, NA18858, NA19375, NA18632, NA19309, NA19390, NA19115, NA19149, NA19147, NA19747, NA21576, NA19072, NA18913, NA21368, NA20530, NA19835, NA17989, NA19324, NA19311, NA19783, NA21361, NA18610, NA17982, NA18501, NA18484, NA21090, NA10843, NA20871, NA21102, NA19468, NA19474, NA19211, NA20852, NA18636, NA18509, NA20289, NA19185, NA18155, NA19116, NA19780, NA19711, NA19900, NA17972, NA19430, NA18957, NA21363, NA18968, NA18670, NA12006, NA19463, NA19063, NA12154, NA20277, NA18740, NA18144, NA20908, NA20350, NA21091, NA18997, NA18120, NA19141, NA19222, NA21383, NA19203, NA21577, NA11829, NA18153, NA19914, NA19332, NA21519, NA21436, NA21399, NA19795, NA18486, NA18545, NA19393, NA21723, NA18596, NA21386, NA18125, NA18870, NA19314, NA21784, NA18967, NA19374, NA19396, NA21405, NA19201, NA21600, NA19762, NA19448, NA19902, NA19119, NA20317, NA18619, NA21355, NA21401, NA18642, NA19771, NA18161, NA19138, NA20288, NA21370, NA19760, NA18611, NA21402, NA18970, NA19383, NA19180, NA18874, NA21611, NA06984, NA18977, NA19917, NA19137, NA18112, NA19385, NA19317, NA21632, NA21478, NA20347, NA19901, NA21442, NA19456, NA19445, NA18975, NA18640, NA18954, NA21320, NA21451, NA19200, NA21494, NA11993, NA18614, NA18140, NA18544, NA21480, NA19210, NA19437, NA20879, NA18934, NA21682, NA12343, NA19152, NA18109, NA18956, NA18515, NA19236, NA18939, NA18516, NA18151, NA18637, NA18132, NA20126, NA19658, NA18503, NA21485, NA21116, NA18757, NA18566, NA21441, NA19114, NA19774, NA17967, NA10830, NA21678, NA21578, NA18135, NA19257, NA19095, NA18634, NA18945, NA19436, NA18608, NA21314, NA21424, NA20773, NA20522, NA19206, NA19918, NA21719, NA18961, NA19473, NA19435, NA21425, NA19334, NA21740, NA19439, NA06986, NA20357, NA19398, NA20302, NA18971, NA18994, NA18500, NA17987, NA19096, NA19213, NA21389, NA19661, NA21509, NA20128, NA19757, NA18852, NA19755, NA19224, NA18955, NA18488, NA19775, NA19139, NA18511, NA20363, NA18562, NA18965, NA21333
Known GenesSLC25A37
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)esv2421786
Frequency
Sample Size1184
Observed Gain0
Observed Loss615
Observed Complex0
Frequencyn/a


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