A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421627



Internal ID8252075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136810..35142319hg38UCSC Ensembl
Innerchr14:35606016..35611525hg19UCSC Ensembl
Innerchr14:34675767..34681276hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg385510
hg195510
hg185510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5102484, essv5005250, essv5094648, essv5129790, essv5138451, essv5063625, essv5088699, essv5079014, essv5148165, essv5136454, essv5116105, essv5035936, essv5120278, essv5054115, essv5046723, essv5060057, essv5113228, essv5016475, essv5159607, essv5012336, essv5141247, essv5036438, essv5023646, essv5024744, essv5118761, essv5032952, essv5152307, essv5126689, essv5099438, essv5152547, essv5144443, essv5139372, essv5010726, essv5018113, essv5140959, essv5009447, essv5078471, essv5154852, essv5041529, essv5021583, essv5137098, essv5101476, essv5084525, essv5146473, essv5065253, essv5007273, essv5137946, essv5111179, essv5114611, essv5137537, essv5052558, essv5011670, essv5035989, essv5139776, essv5032610, essv5054142, essv5114063, essv5054306, essv5070327, essv5032229, essv5039590, essv5066473, essv5021831, essv5087450, essv5074964, essv5013953, essv5060822, essv5152807, essv5022949, essv5099571, essv5031945, essv5155339, essv5098016, essv5130920, essv5084670, essv5018752, essv5030594, essv5092236, essv5136792, essv5044738, essv5074797, essv5048287, essv5024855, essv5029528, essv5152380, essv5047028, essv5035551, essv5029473, essv5076514, essv5025088, essv5078891, essv5057129, essv5029714, essv5056454, essv5050677, essv5135408, essv5123508, essv5046963, essv5027890, essv5020109, essv5087122, essv5036014, essv5069074, essv5063037, essv5132174, essv5144209, essv5096198, essv5003702, essv5124675, essv5105097, essv5044773, essv5069712, essv5149974, essv5089057, essv5010942, essv5066593, essv5053901, essv5027358, essv5033832, essv5149585, essv5075316, essv5129518, essv5081073, essv5003103, essv5100139, essv5154941, essv5085173, essv5038953, essv5146167, essv5091672, essv5043852, essv5028393, essv5128807, essv5009340, essv5134300, essv5046625, essv5133919, essv5034380, essv5126484, essv5060901, essv5028420, essv5152993, essv5011888, essv5145761, essv5098064, essv5097818, essv5125569, essv5082953, essv5130264, essv5031313, essv5006093, essv5040723, essv5115661, essv5009545, essv5044502, essv5007825, essv5048851, essv5045541, essv5158261, essv5114877, essv5113875, essv5100530, essv5152895, essv5094089, essv5093463, essv5033132, essv5004850, essv5110366, essv5041450, essv5007017, essv5144686, essv5060102, essv5102181, essv5010008, essv5039244, essv5038732, essv5006108, essv5037816, essv5097703, essv5024328, essv5128621, essv5019504, essv5116142, essv5100370, essv5076062, essv5024127, essv5143316, essv5036902, essv5113000, essv5134462, essv5157392, essv5032995, essv5051732, essv5080146, essv5146306, essv5137242, essv5054343, essv5050229, essv5147795, essv5149052, essv5140920, essv5020543, essv5015132, essv5072174, essv5022196, essv5088697, essv5155504, essv5017720, essv5017598, essv5156128, essv5098748, essv5055644, essv5052068, essv5004322, essv5002768, essv5104252, essv5145805, essv5145141, essv5086134, essv5130796, essv5125962, essv5139428, essv5155762, essv5117618, essv5156523, essv5109631, essv5159444, essv5098362, essv5029111, essv5073341, essv5016936, essv5096106, essv5071933, essv5099198, essv5115703, essv5072183, essv5100695, essv5141783, essv5092578, essv5041052, essv5059282, essv5110496, essv5087091, essv5041267, essv5143549, essv5053197, essv5159538, essv5016458, essv5139777, essv5077593, essv5081361, essv5121395, essv5139662, essv5113878, essv5012830, essv5150392, essv5014718, essv5056599, essv5022431, essv5003964, essv5055903, essv5112818, essv5099923, essv5062373, essv5150203, essv5130312, essv5018923, essv5122058, essv5052243, essv5065242, essv5139358, essv5138350, essv5008706, essv5127558, essv5134021, essv5154938, essv5070273, essv5155976, essv5126956, essv5119454, essv5102237, essv5123215, essv5041540, essv5109440, essv5056726, essv5066276, essv5050132, essv5076219, essv5040213, essv5072111, essv5157900, essv5040115, essv5108625, essv5017418, essv5079438, essv5114157, essv5150572, essv5016118, essv5016064, essv5129991, essv5054268, essv5088739, essv5073434, essv5149272, essv5069864, essv5132834, essv5017730, essv5045056, essv5035545
SamplesNA18745, NA19058, NA20529, NA18621, NA18947, NA12286, NA20508, NA18647, NA20300, NA12273, NA21099, NA20816, NA20752, NA18999, NA18639, NA17990, NA18959, NA18616, NA18602, NA18627, NA18563, NA17974, NA17980, NA21473, NA20774, NA12802, NA20911, NA18101, NA18993, NA18558, NA18960, NA18618, NA19062, NA18582, NA20768, NA19784, NA19650, NA18571, NA18136, NA11930, NA20539, NA20518, NA21650, NA21109, NA20775, NA17997, NA18160, NA12044, NA18748, NA17996, NA18689, NA18966, NA17993, NA19722, NA18990, NA19796, NA18557, NA18704, NA20515, NA19789, NA18129, NA19921, NA18645, NA18951, NA17998, NA18605, NA20535, NA19908, NA12760, NA12752, NA19070, NA19670, NA21596, NA18674, NA18117, NA19086, NA18118, NA18694, NA20883, NA12877, NA18948, NA18534, NA18981, NA19064, NA18548, NA18537, NA18573, NA19671, NA17999, NA21112, NA18122, NA20856, NA18532, NA17965, NA19059, NA19761, NA18555, NA18963, NA12778, NA10856, NA18570, NA19625, NA12546, NA18974, NA18953, NA18108, NA20851, NA20799, NA18114, NA18632, NA06991, NA12057, NA19747, NA18628, NA20815, NA19072, NA20909, NA18128, NA20790, NA17970, NA21582, NA19083, NA18943, NA20281, NA19783, NA12763, NA18615, NA18610, NA20888, NA20897, NA19705, NA18631, NA20871, NA18134, NA21102, NA19716, NA18609, NA12875, NA18138, NA20758, NA19780, NA20345, NA17972, NA18957, NA21363, NA18968, NA18624, NA12890, NA18623, NA18740, NA18612, NA10837, NA19074, NA20772, NA18997, NA18120, NA18998, NA20874, NA11830, NA17969, NA20853, NA19055, NA20877, NA10845, NA18592, NA12814, NA18153, NA12767, NA20899, NA18980, NA18166, NA21436, NA19763, NA19704, NA20531, NA18599, NA17975, NA18641, NA19795, NA18545, NA19393, NA19057, NA18596, NA18125, NA19669, NA18526, NA18962, NA18550, NA20586, NA18635, NA20769, NA18105, NA11992, NA19653, NA18642, NA12283, NA19088, NA18161, NA12287, NA19054, NA19681, NA18964, NA06993, NA12761, NA11917, NA18749, NA12282, NA19651, NA20349, NA19719, NA19075, NA21107, NA18131, NA12889, NA12815, NA21825, NA19002, NA20884, NA12828, NA19445, NA18975, NA18640, NA18973, NA18954, NA18158, NA18150, NA18638, NA20129, NA11993, NA19007, NA18140, NA20854, NA18106, NA19657, NA20879, NA20524, NA10863, NA20809, NA18109, NA19748, NA18991, NA18529, NA20895, NA18939, NA18685, NA18151, NA18637, NA18132, NA20506, NA12376, NA21098, NA19658, NA18630, NA20344, NA18682, NA21116, NA18757, NA18133, NA18566, NA17977, NA19000, NA20859, NA17967, NA19001, NA12827, NA12264, NA18135, NA12817, NA12766, NA19225, NA20828, NA20542, NA18634, NA19659, NA18945, NA21573, NA21143, NA18978, NA18162, NA19834, NA19108, NA18961, NA18952, NA18543, NA12775, NA19773, NA07051, NA19919, NA19085, NA07055, NA21379, NA19109, NA21364, NA18971, NA17987, NA21614, NA18149, NA17988, NA18552, NA18696, NA17981, NA19224, NA18955, NA21104, NA18148, NA18622, NA18562, NA18965, NA20509
Known GenesKIAA0391
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)esv2421627
Frequency
Sample Size1184
Observed Gain0
Observed Loss309
Observed Complex0
Frequencyn/a


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