A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421900



Internal ID8252348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55759925..55788532hg38UCSC Ensembl
Innerchr16:55793837..55822444hg19UCSC Ensembl
Innerchr16:54351338..54379945hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3828608
hg1928608
hg1828608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5038021, essv5021827, essv5045686, essv5119136, essv5061105, essv5009263, essv5113462, essv5135806, essv5031157, essv5020560, essv5005735, essv5105249, essv5041907, essv5091130, essv5055112, essv5112713, essv5152272, essv5132499, essv5051114, essv5097134, essv5092463, essv5087650, essv5155426, essv5129508, essv5009234, essv5092521, essv5143772, essv5087934, essv5067970, essv5156011, essv5141130, essv5089056, essv5064326, essv5043718, essv5144006, essv5039129, essv5146037, essv5121300, essv5149023, essv5059856, essv5140610, essv5098954, essv5056830, essv5145610, essv5125028, essv5003778, essv5076595, essv5059303, essv5119085, essv5114921, essv5084728, essv5143471, essv5082222, essv5046715, essv5144793, essv5135058, essv5113006, essv5012436, essv5109163, essv5071615, essv5102626, essv5125924, essv5134734, essv5055299, essv5111149, essv5057972, essv5100169, essv5092865, essv5109742, essv5031988, essv5025835, essv5106689, essv5058519, essv5019931, essv5150582, essv5107972, essv5010605, essv5036737, essv5033483, essv5129851, essv5046906, essv5156923, essv5118713, essv5016019, essv5102826, essv5057152, essv5064716, essv5043448, essv5133240, essv5064468, essv5122222, essv5066649, essv5045324, essv5142823, essv5038464, essv5010976, essv5090799, essv5074208, essv5143470, essv5034907, essv5108652, essv5014739, essv5005210, essv5079873, essv5117782, essv5042903, essv5033050, essv5004742, essv5053634, essv5151905, essv5076504, essv5050528, essv5010987, essv5157236, essv5033744, essv5025469, essv5118259, essv5110027, essv5099163, essv5120330, essv5159094, essv5126896, essv5085709, essv5141180, essv5139709, essv5122972, essv5104885, essv5064165, essv5032211, essv5027387, essv5096508, essv5105327, essv5117864, essv5130398, essv5008613, essv5097390, essv5109526, essv5098018, essv5151552, essv5113461, essv5030553, essv5130575, essv5049219, essv5029918, essv5039357, essv5146618, essv5094189, essv5136731, essv5049799, essv5114556, essv5054003, essv5003937, essv5076339, essv5013238, essv5106211, essv5022604, essv5043186, essv5040445, essv5146751, essv5017936, essv5093467, essv5056896, essv5019266, essv5101646, essv5081338, essv5006931, essv5014643, essv5006918, essv5081573, essv5139108, essv5135404, essv5125036, essv5140184, essv5068056, essv5088383, essv5043504, essv5059910, essv5026753, essv5128503, essv5018707, essv5106210, essv5120815, essv5094839, essv5027901, essv5061695, essv5008587, essv5150020, essv5065375, essv5150542, essv5100552, essv5081603, essv5087788, essv5153789, essv5114927, essv5064705, essv5022660, essv5140166, essv5030153, essv5160286, essv5110705, essv5105925, essv5058352, essv5116667, essv5008776, essv5076419, essv5002516, essv5140258, essv5061236, essv5032408, essv5143149, essv5104529, essv5054505, essv5159963, essv5159847, essv5062008, essv5004297, essv5143783, essv5014712, essv5146334, essv5047945, essv5021059, essv5045985, essv5050943, essv5019210, essv5007381, essv5054716, essv5013218, essv5102452, essv5042555, essv5067439, essv5020399, essv5060417, essv5005827, essv5161037, essv5130984, essv5052953, essv5023838, essv5069337, essv5044457, essv5032947, essv5021871, essv5113235, essv5064849, essv5063261, essv5012883, essv5051340, essv5161121, essv5078207, essv5007507, essv5028506, essv5056273, essv5002994, essv5054554, essv5074751, essv5085439, essv5019145, essv5122785, essv5045969, essv5074535, essv5102067, essv5096360, essv5034836, essv5025732, essv5081349, essv5121689, essv5105623, essv5077948, essv5075500, essv5110952, essv5096971, essv5150616, essv5057935, essv5098519, essv5037574, essv5051932, essv5137503, essv5119485, essv5048825, essv5157867, essv5058329, essv5161161, essv5024325, essv5014626, essv5136817, essv5004205, essv5156880, essv5014042, essv5028107, essv5120251, essv5093692, essv5057297, essv5120176, essv5038570, essv5074957, essv5118760, essv5097963, essv5135415, essv5043699, essv5023290, essv5016374, essv5031734, essv5104318, essv5111146
SamplesNA20588, NA18139, NA21636, NA18621, NA18947, NA12286, NA19664, NA20300, NA21099, NA21100, NA11920, NA20752, NA18999, NA20802, NA18639, NA17990, NA12146, NA19684, NA18616, NA18152, NA12750, NA19067, NA18602, NA18627, NA18563, NA17974, NA17986, NA10835, NA18597, NA21359, NA18995, NA19678, NA18107, NA12336, NA20756, NA20911, NA19686, NA18993, NA18960, NA18618, NA21297, NA19724, NA19650, NA18571, NA12762, NA21108, NA17983, NA19079, NA18949, NA18136, NA11930, NA18159, NA19720, NA17997, NA07014, NA18160, NA12044, NA18748, NA17996, NA18966, NA17993, NA19722, NA18154, NA18990, NA18557, NA10839, NA18102, NA19789, NA18645, NA12777, NA17998, NA21307, NA17976, NA18747, NA12760, NA19070, NA19056, NA20885, NA18118, NA20883, NA12877, NA19683, NA19081, NA18579, NA20519, NA18572, NA18534, NA12234, NA19064, NA18537, NA20525, NA19654, NA17979, NA11919, NA20866, NA20901, NA19084, NA12386, NA17999, NA18156, NA18532, NA19656, NA12145, NA19718, NA18141, NA18963, NA07345, NA18127, NA10856, NA19625, NA18593, NA12546, NA18974, NA18108, NA20872, NA18146, NA19652, NA06991, NA18702, NA18517, NA18564, NA19747, NA18628, NA19072, NA12272, NA20909, NA20870, NA20520, NA18128, NA19010, NA17970, NA21582, NA18943, NA21388, NA18610, NA20888, NA19662, NA17982, NA21435, NA18631, NA10843, NA18134, NA21102, NA19716, NA20852, NA18636, NA18609, NA18155, NA18138, NA18968, NA18670, NA12890, NA19065, NA18740, NA10837, NA11832, NA20772, NA18620, NA18998, NA19222, NA11830, NA19700, NA21097, NA20543, NA19055, NA20877, NA11995, NA10845, NA18592, NA18153, NA20292, NA20899, NA18980, NA18561, NA21092, NA17975, NA18641, NA18603, NA17966, NA19057, NA12248, NA20346, NA11891, NA12400, NA19314, NA18962, NA12155, NA18967, NA20861, NA21526, NA20586, NA18635, NA18619, NA19916, NA21355, NA18105, NA19352, NA18942, NA19649, NA18642, NA20540, NA18161, NA19681, NA06993, NA11917, NA18749, NA12005, NA18970, NA18977, NA19677, NA18112, NA19075, NA18617, NA19317, NA19087, NA20845, NA20811, NA10855, NA19721, NA19665, NA21634, NA18640, NA18973, NA18954, NA18158, NA18150, NA18638, NA18614, NA18140, NA20854, NA18106, NA18613, NA10863, NA18109, NA18515, NA19748, NA18991, NA18529, NA18939, NA18685, NA18637, NA18132, NA20506, NA12376, NA21118, NA18976, NA18630, NA18682, NA18757, NA18133, NA18566, NA17977, NA19774, NA19000, NA20859, NA20538, NA12249, NA18946, NA18135, NA06985, NA19756, NA18536, NA20542, NA19675, NA18546, NA21143, NA18608, NA18978, NA21113, NA19680, NA18162, NA19918, NA06997, NA18961, NA17962, NA07051, NA20504, NA10840, NA18643, NA19085, NA07055, NA06986, NA20887, NA21125, NA19376, NA19078, NA20582, NA17987, NA19726, NA18149, NA18972, NA21389, NA19661, NA19757, NA17981, NA19755, NA19775, NA18511, NA21104, NA18148, NA18622, NA18562, NA18965
Known GenesCES1P1
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)esv2421900
Frequency
Sample Size1184
Observed Gain0
Observed Loss303
Observed Complex0
Frequencyn/a


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