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 Variantsessv5025811, essv5120538, essv5151701, essv5015618, essv5154408, essv5015576, essv5068885, essv5123483, essv5025112, essv5131541, essv5062468, essv5074165, essv5158418, essv5126154, essv5107130, essv5074983, essv5121120, essv5014873, essv5043274, essv5010383, essv5020956, essv5062141, essv5029989, essv5142193, essv5102016, essv5066146, essv5072597, essv5013153, essv5126035, essv5057074, essv5039884, essv5105326, essv5093707, essv5149058, essv5059347, essv5018405, essv5094148, essv5047826, essv5114958, essv5072041, essv5093307, essv5124802, essv5050658, essv5110348, essv5132448, essv5073918, essv5131838, essv5158226, essv5019592, essv5068846, essv5064894, essv5128281, essv5096399, essv5009625, essv5014055, essv5028814, essv5035573, essv5043609, essv5142629, essv5011467, essv5037846, essv5094309, essv5116566, essv5014274, essv5079468, essv5068454, essv5148091, essv5039187, essv5050393, essv5035488, essv5091108, essv5022997, essv5138648, essv5064347, essv5157042, essv5036765, essv5005644, essv5082033, essv5054597, essv5047213, essv5088452, essv5042601, essv5020887, essv5104307, essv5012963, essv5103811, essv5143269, essv5131579, essv5144259, essv5002147, essv5105905, essv5118357, essv5158540, essv5079935, essv5125511, essv5155045, essv5040444, essv5079393, essv5072785, essv5047307, essv5053045, essv5108809, essv5133895, essv5055151, essv5009917, essv5127089, essv5042063, essv5075536, essv5045816, essv5110902, essv5063203, essv5020321, essv5011918, essv5075580, essv5143437, essv5109842, essv5030275, essv5144159, essv5153141, essv5006059, essv5144462, essv5063173, essv5020654, essv5045487, essv5069931, essv5064429, essv5038298, essv5064464, essv5045000, essv5114782, essv5139134, essv5158361, essv5064300, essv5135930, essv5012092, essv5130826, essv5117687, essv5159382, essv5130572, essv5067243, essv5098426, essv5122607, essv5147289, essv5065067, essv5061410, essv5091797, essv5070296, essv5029893, essv5098757, essv5057919, essv5145656, essv5050230, essv5110063, essv5090096, essv5060575, essv5039719, essv5091771, essv5068792, essv5048624, essv5092406, essv5160040, essv5011239, essv5080274, essv5069054, essv5097137, essv5104404, essv5049963, essv5118662, essv5117544, essv5049242, essv5035998, essv5108729, essv5124542, essv5142107, essv5031680, essv5089689, essv5012947, essv5066486, essv5125257, essv5139717, essv5031411, essv5063666, essv5010782, essv5066417, essv5078337, essv5141315, essv5130673, essv5086923, essv5010329, essv5073730, essv5124963, essv5079528, essv5043073, essv5142681, essv5139225, essv5035338, essv5147118, essv5116407, essv5069082, essv5144823, essv5022669, essv5033479, essv5158443, essv5135357, essv5148033, essv5113329, essv5128589, essv5094907, essv5019565, essv5128031, essv5131815, essv5018098, essv5023435, essv5022125, essv5108734, essv5066103, essv5144256, essv5123177, essv5093557, essv5130558, essv5082195, essv5038723, essv5129708, essv5158923, essv5031105, essv5160381, essv5032488, essv5109542, essv5149182, essv5005831, essv5125263, essv5105080, essv5135934, essv5055672, essv5157989, essv5083011, essv5113074, essv5065158, essv5080407, essv5121261, essv5017975, essv5050731, essv5008876, essv5154460, essv5051980, essv5029523, essv5014163, essv5149965, essv5153328, essv5025005, essv5152039, essv5025152, essv5085619, essv5044045, essv5011161, essv5016962, essv5049198, essv5095939, essv5137596, essv5130568, essv5106981, essv5103704, essv5128514, essv5128033, essv5161096, essv5145964, essv5072709, essv5089182, essv5137323, essv5103696, essv5083311, essv5090664, essv5038436, essv5092261, essv5126609, essv5110212, essv5030797, essv5029692, essv5100737, essv5109279, essv5007622, essv5097084, essv5124218, essv5097278, essv5049766, essv5079964, essv5004561, essv5126994, essv5123641, essv5043156, essv5144969, essv5037592, essv5020992, essv5094286, essv5015857, essv5125820, essv5060887, essv5121390, essv5089823, essv5046931, essv5150450, essv5126611, essv5100319, essv5128114, essv5012996, essv5101978, essv5054757, essv5039313, essv5122373, essv5052335, essv5080466, essv5156911, essv5126152, essv5122061, essv5038514, essv5031054, essv5043636, essv5133522, essv5065835, essv5099827, essv5056167, essv5123791, essv5099342, essv5134100, essv5136068, essv5031886, essv5117861, essv5140137, essv5033081, essv5081764, essv5033445, essv5027925, essv5063354, essv5037525, essv5022813, essv5079980, essv5009978, essv5151632, essv5159894, essv5058120, essv5138383, essv5011839, essv5024134, essv5017178, essv5133696, essv5156705, essv5118830, essv5149195, essv5121188, essv5005899, essv5087454, essv5023315, essv5121375, essv5141148, essv5153727, essv5127672, essv5035356, essv5076070, essv5064057, essv5093895, essv5111215, essv5093152, essv5121638, essv5101678, essv5152868, essv5067718, essv5146844, essv5020415, essv5042711, essv5029863, essv5117941, essv5128570, essv5136597, essv5082179, essv5065883, essv5079037, essv5126736, essv5103982, essv5059833, essv5134459, essv5107860, essv5097079, essv5054909, essv5012657, essv5126159, essv5157906, essv5122274, essv5019551, essv5085902, essv5071125, essv5144768, essv5066528, essv5153117, essv5112688, essv5006545, essv5155449, essv5144227, essv5109912, essv5072751, essv5008774, essv5003052, essv5114044, essv5156037, essv5117915, essv5101282, essv5154268, essv5029347, essv5013409, essv5081041, essv5014338, essv5064113, essv5138056, essv5124059, essv5089596, essv5024670, essv5060084, essv5158802, essv5115466, essv5074313, essv5084844, essv5033289, essv5041218, essv5068926, essv5127453, essv5088106, essv5145638, essv5019994, essv5144845, essv5138834, essv5006311, essv5113979, essv5066492, essv5125072, essv5053786, essv5116537, essv5056771, essv5094425, essv5136142, essv5005759, essv5061265, essv5135763, essv5093279, essv5062845, essv5096784, essv5014745, essv5152325, essv5083226, essv5036446, essv5151212, essv5140005, essv5137768, essv5041617, essv5064055, essv5094325, essv5147521, essv5078038, essv5096687, essv5098974, essv5104942, essv5012001, essv5057555, essv5035852, essv5157068, essv5076818, essv5058681, essv5040201, essv5154032, essv5025691, essv5129058, essv5096725, essv5062469, essv5096568, essv5034670, essv5137847, essv5154048, essv5131744, essv5135120, essv5086817, essv5121373, essv5107858, essv5012399, essv5109300, essv5102095, essv5080133, essv5019328, essv5125595, essv5010117, essv5099842, essv5072357, essv5068662, essv5095011, essv5033928, essv5156173, essv5070722, essv5021280, essv5127454, essv5008308, essv5132821, essv5039141, essv5122345, essv5074720, essv5002353, essv5045954, essv5085427, essv5137347, essv5148232, essv5021462, essv5074671, essv5092267, essv5091231, essv5116397, essv5015449, essv5130608, essv5007000, essv5011005, essv5078427, essv5147015, essv5034029, essv5044568, essv5100954, essv5151838, essv5048543, essv5039451, essv5017534, essv5037117, essv5153655, essv5050340, essv5046147, essv5148583, essv5025749, essv5028929, essv5131150, essv5150927, essv5069554, essv5160211, essv5044909, essv5120284, essv5054235, essv5003317, essv5129088, essv5032349, essv5137345, essv5052440, essv5144436, essv5109358, essv5023870, essv5043541, essv5082786, essv5055241, essv5131025, essv5064186, essv5061028, essv5057148, essv5057632, essv5034830, essv5024649, essv5119971, essv5041182, essv5035546, essv5104303, essv5133920, essv5063946, essv5126640, essv5048761, essv5008148, essv5067905, essv5028545, essv5049446, essv5053553, essv5131275, essv5091984, essv5004333, essv5123060, essv5105745, essv5091005, essv5061633, essv5048494, essv5137218, essv5081554, essv5055512, essv5110609, essv5140805, essv5050894, essv5153473, essv5116150, essv5137016, essv5044491, essv5010510, essv5051405, essv5145564, essv5030219, essv5063031, essv5089899, essv5037248, essv5156180, essv5035665, essv5032219, essv5063221, essv5071252, essv5026921, essv5068962, essv5084916, essv5086723, essv5152750, essv5135636, essv5004984, essv5062566, essv5031826, essv5145483, essv5085411, essv5039868, essv5082431, essv5095332, essv5048401, essv5003238
SamplesNA18642, NA17989, NA18503, NA19207, NA18870, NA19248, NA20876, NA12154, NA21723, NA17999, NA18160, NA19757, NA18951, NA19192, NA21631, NA18871, NA21320, NA21613, NA18757, NA21447, NA19120, NA19311, NA21685, NA17982, NA19435, NA21718, NA18516, NA19334, NA18517, NA19109, NA21825, NA18161, NA20292, NA21415, NA19775, NA18507, NA19760, NA21357, NA21425, NA19257, NA21361, NA18156, NA19180, NA19236, NA21611, NA18505, NA19472, NA19151, NA19208, NA21384, NA18868, NA18139, NA21090, NA19211, NA18114, NA19390, NA21493, NA19199, NA19309, NA18635, NA19917, NA18536, NA19197, NA19471, NA19107, NA19444, NA20530, NA18617, NA18641, NA18990, NA18636, NA21596, NA18592, NA19096, NA21363, NA12273, NA20127, NA12761, NA18956, NA19429, NA19908, NA21513, NA18959, NA18609, NA21116, NA21647, NA18497, NA17977, NA18485, NA18138, NA18637, NA19075, NA18916, NA21738, NA18593, NA19181, NA21408, NA21451, NA19457, NA19700, NA21399, NA20341, NA21102, NA19324, NA19190, NA21491, NA19055, NA21442, NA18144, NA19360, NA19313, NA20128, NA18149, NA18640, NA18696, NA18515, NA19129, NA19189, NA19771, NA21525, NA17966, NA18120, NA19372, NA18633, NA20291, NA19374, NA21316, NA18939, NA19384, NA19027, NA18968, NA20852, NA18674, NA21379, NA19119, NA19215, NA21689, NA18106, NA19176, NA19708, NA21308, NA19154, NA19705, NA21382, NA10856, NA19139, NA17967, NA21303, NA21485, NA18978, NA19763, NA18961, NA19237, NA20347, NA21527, NA18925, NA21418, NA17970, NA18694, NA19328, NA20129, NA21336, NA19711, NA19141, NA18940, NA18619, NA18987, NA18597, NA19921, NA21378, NA19138, NA19376, NA20358, NA21632, NA21476, NA19794, NA21682, NA19201, NA21439, NA20302, NA21510, NA18740, NA19128, NA18857, NA19009, NA19115, NA17975, NA21509, NA19116, NA21733, NA18631, NA19431, NA19123, NA20289, NA19747, NA18544, NA19097, NA21383, NA19755, NA21480, NA21576, NA18614, NA19778, NA18548, NA20317, NA21366, NA17976, NA21424, NA19225, NA18852, NA19224, NA18689, NA21436, NA20288, NA18924, NA19371, NA20359, NA18610, NA21597, NA19315, NA18108, NA11829, NA21719, NA20904, NA19204, NA18112, NA19350, NA20898, NA21355, NA18615, NA21387, NA19185, NA19087, NA21091, NA18555, NA19385, NA19661, NA17995, NA19202, NA19466, NA19659, NA21494, NA21768, NA18105, NA18962, NA21526, NA18166, NA20281, NA19137, NA19183, NA18122, NA21520, NA18647, NA19152, NA19445, NA19625, NA19796, NA18861, NA19436, NA12750, NA20874, NA10843, NA18158, NA19044, NA20522, NA18101, NA21524, NA20349, NA20859, NA19222, NA21678, NA18561, NA21317, NA21578, NA18933, NA18117, NA18952, NA18975, NA21517, NA18874, NA12752, NA21478, NA19783, NA18500, NA21307, NA17990, NA19149, NA18550, NA18570, NA19072, NA20871, NA21600, NA19748, NA18511, NA19455, NA18639, NA18993, NA20294, NA21487, NA18124, NA18948, NA19430, NA19317, NA21435, NA19203, NA18972, NA20529, NA19150, NA18573, NA18608, NA21403, NA21479, NA19184, NA21386, NA18702, NA18855, NA18484, NA19210, NA21385, NA19834, NA19983, NA20363, NA19656, NA21457, NA18109, NA18524, NA19108, NA21295, NA18965, NA21489, NA18488, NA19474, NA18704, NA19084, NA19780, NA21368, NA18506, NA18873, NA19147, NA20883, NA19776, NA20295, NA19226, NA19438, NA21528, NA19654, NA21400, NA18632, NA19762, NA21314, NA18559, NA19914, NA20761, NA18670, NA17986, NA19067, NA19161, NA19383, NA19982, NA21309, NA21577, NA18998, NA18934, NA18508, NA19054, NA21137, NA21686, NA20356, NA20515, NA12383, NA18566, NA18957, NA19068, NA21716, NA18576, NA12864, NA19900, NA20908, NA18162, NA21301, NA12343, NA18118, NA18991, NA18930, NA19396, NA21587, NA18638, NA19398, NA19440, NA19066, NA19774, NA21477, NA18140, NA19182, NA20364, NA21523, NA18976, NA19256, NA21352, NA21522, NA18973, NA19835, NA20282, NA19658, NA19663, NA20892, NA12830, NA19918, NA21650, NA18634, NA20589, NA18970, NA19684, NA19919, NA20773, NA12006, NA19213, NA19377, NA21740, NA19153, NA18518, NA18537, NA19122, NA18135, NA18645, NA19172, NA19702, NA19759, NA21333, NA18954, NA19375, NA19393, NA20126, NA17972, NA06985, NA19206, NA19373, NA21717, NA18498, NA18923, NA18486, NA06986, NA19238, NA21434, NA18132, NA18875, NA20344, NA18151, NA19713, NA18558, NA18977, NA19098, NA18102, NA18749, NA19901, NA18155, NA12872, NA18504, NA19704, NA19836, NA20350, NA21381, NA21619, NA18487, NA18564, NA18858, NA18942, NA19347, NA19332, NA19909, NA21784, NA20582, NA18997, NA19221, NA21370, NA21475, NA18107, NA18562, NA19074, NA19159, NA17996, NA18125, NA17987, NA18579, NA19307, NA19318, NA19462, NA20879, NA18945, NA19902, NA18159, NA21401, NA19258, NA21486, NA18552, NA19038, NA21521, NA21635, NA18599, NA18955, NA20357, NA21420, NA18995, NA21344, NA20799, NA06984, NA18867, NA19394, NA21601, NA18133, NA21389, NA18129, NA17980, NA21402, NA18971, NA19434, NA10830, NA18577, NA21519, NA19452, NA19064, NA19041, NA19063, NA11993, NA19399, NA21405, NA21583, NA19916, NA19470, NA21356, NA18611, NA19095, NA19171, NA17968, NA18532, NA18853, NA18935, NA19079, NA19473, NA20524, NA20870, NA18913, NA12760, NA17965, NA19448, NA19468, NA19200, NA19007, NA21365, NA17974, NA19456, NA20301, NA18519, NA19065, NA19058, NA19121, NA18980, NA19439, NA19127, NA19194, NA18605, NA21438, NA21441, NA18509, NA18520, NA18595, NA18616, NA21353, NA18534, NA21473, NA21297, NA12342, NA19437, NA19114, NA18966, NA11920, NA19209, NA21529, NA18501, NA19191, NA18859, NA18545, NA19319, NA18153, NA19359, NA18128, NA21423, NA21300, NA12828, NA19795, NA18134, NA20889, NA18489, NA19379, NA20539, NA18860, NA18127, NA18994, NA20277, NA19915, NA18745, NA18596, NA18949, NA19143, NA20340, NA17993, NA19077, NA19062, NA20284, NA19463, NA19046, NA18979, NA18967, NA19148, NA19314
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer