A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660214



Internal ID9579633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134955060..134955713hg38UCSC Ensembl
chr3:134673902..134674555hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6130696, essv6538927, essv6594750, essv5880572, essv6036197, essv6569775, essv6323047, essv6463766, essv6455847, essv5589374, essv6061400, essv6271059, essv5584527, essv6522659, essv5969855, essv5786148, essv6364776, essv5442016, essv5688098, essv6533699, essv5583214, essv6569577, essv5592634, essv6412418, essv5980399, essv6583689, essv6565579, essv5495674, essv5898374, essv5549316, essv5661635, essv5756167, essv6517790, essv5592953, essv5948732, essv5572876, essv6455789, essv5625792, essv5772249, essv6244169, essv5404915, essv6449136, essv5706849, essv5976921, essv6583715, essv5749340, essv5451508, essv5669881, essv5800190, essv6017601, essv6059822, essv5618992, essv5686347, essv6337674, essv5914414, essv5935971, essv6163813, essv6074856, essv6195641, essv6257979, essv6279494, essv6445713, essv5438490, essv5865668, essv6180878, essv6101988, essv6501913, essv6007519, essv6437277, essv6540745, essv5482273, essv6064576, essv6499803, essv5504942, essv6271168, essv5790671, essv5671927, essv5462291, essv5791576, essv5462650, essv5572267, essv6113041, essv5787652, essv5540967, essv6124419, essv6128605, essv6375832, essv5474786, essv5844252, essv6188877, essv6227166, essv5962018, essv6469712, essv5684539, essv5564073, essv6288115, essv6429354, essv5744270, essv5857041, essv6139014, essv5729636, essv5753389, essv5573235, essv6315266, essv6390431, essv5688850, essv6414473, essv5684228, essv6592491, essv5798529, essv6417742, essv5520221, essv5886021, essv5640955, essv5657375, essv5650144, essv6231939, essv5683796, essv6250026, essv6349870, essv6551896, essv6162581, essv6380006, essv5841919, essv6223802, essv6235745, essv5469401, essv6339762, essv5661637, essv5716271, essv5821426, essv5677813, essv6594197, essv5645627, essv5849658, essv5690162, essv6537218, essv6582429, essv5525304, essv5988784, essv5818150, essv6276515, essv5716060, essv5905542, essv6000264, essv6430173, essv5905613, essv6228196, essv6418880, essv6043580, essv6440533, essv5632508, essv6022767, essv6472209, essv5751416, essv5855174, essv6036268, essv5658291, essv6568894, essv5607584, essv5968701, essv6576506, essv6177305, essv5531192, essv6443725, essv5587018, essv5801203, essv6260119, essv5941126, essv6009210, essv5569512, essv6049460, essv6446172, essv5592583, essv5863647, essv5503400, essv5579047, essv6148604, essv6325949, essv6415512, essv5481269, essv6169777, essv5721823, essv6369530, essv6401739, essv5445200, essv5934044, essv6196009, essv5951227, essv5982063, essv6406861, essv6477697, essv6407335, essv6555916, essv5833183, essv5631751, essv5657576, essv6332798, essv6124880, essv5660894, essv6133360, essv6435503, essv5887152, essv6468060, essv5450414, essv5804113, essv6370253, essv5945757, essv5436804, essv5759210, essv6216657, essv6071849, essv6530754, essv5678142, essv5683804, essv6537930, essv5850276, essv5933876, essv5501083, essv6276247, essv5760158, essv5860777, essv6297010, essv6473018, essv6503366, essv5406644, essv6417411, essv5857840, essv6047357, essv5476942, essv5693424, essv5874388, essv6191084, essv6084536, essv5399606, essv6424725, essv5430854, essv6298329, essv6579112, essv5660211, essv5731260, essv5841829, essv5910996, essv6115827, essv6507686, essv6530076, essv5637667, essv5934491, essv5701578, essv6428045, essv5870019, essv5585815, essv6048834, essv6400289, essv6507998, essv5396765, essv5792434, essv6193752, essv6513250, essv5444248, essv6106683, essv5501032, essv6247258, essv6415189, essv5420927, essv5784713, essv5921977, essv6100527, essv5580760, essv5930162, essv5697013, essv6405230, essv5753339, essv5650139, essv6337687, essv5880048, essv5560460, essv5983498, essv5647223, essv5419661, essv6171396, essv6203221, essv5623876, essv6212163, essv6401030, essv6530986, essv5555446, essv5876065, essv6084599, essv6448849, essv5642574, essv5637500, essv6077012, essv5777794, essv5510325, essv6072507, essv6192467, essv6337180, essv6403429, essv5983340, essv6331227, essv5657615, essv5843629, essv5749019, essv5888210, essv6021125, essv5918347, essv5534048, essv5977285, essv5768821, essv5602085, essv5577623, essv6078040, essv5911248, essv6210173, essv5462142, essv5583713, essv5933977, essv5563337, essv6057818, essv6524588, essv5742268, essv6306608, essv5597864, essv5628577, essv6542888, essv5642874, essv6130975, essv5964037, essv5715774, essv5978530, essv5501550, essv6034988, essv6057628, essv6176925, essv6587591, essv6104542, essv5880919, essv5957620, essv6551557, essv5727061, essv6419520, essv5599824, essv5849770, essv6009296, essv6402076, essv6516944, essv5962064, essv6117274, essv5426217, essv5567862, essv5520318, essv5543431, essv6323572, essv5722079, essv6495266, essv6307308, essv5655291, essv6030073, essv6046720, essv6510080, essv5811957, essv5519552, essv6269051, essv6112237, essv6302708, essv5515967, essv6543571, essv5683316, essv6425467, essv5556473, essv5619437, essv5631736, essv5640553, essv6024966, essv6016583, essv6039271, essv6526764, essv5525241, essv6385686, essv6465202, essv5900042, essv5809782, essv5857271, essv5800060, essv6012265, essv5433170, essv5501859, essv5814709, essv6337119, essv6479749, essv6111767, essv6489774, essv6143518, essv6337451, essv5775365, essv6553353, essv6368996, essv5544765, essv6021661, essv6426707, essv6522007, essv5433380, essv5810438, essv5844443, essv5669474, essv5879702, essv5753620, essv5797780, essv5876895, essv6133570, essv6317908, essv6409244, essv6292159, essv6325840, essv6009890, essv6212015, essv6227068, essv5517041, essv5677870, essv5899113, essv6017732, essv5876054, essv6406042, essv6018829, essv6107176, essv6087044, essv5923927, essv6596460, essv6292485, essv5852301, essv5600510, essv6357797, essv5881048, essv6354592, essv6416803, essv5558293, essv6032946, essv5632787, essv6216082, essv5732788, essv5533959, essv6466471, essv6586888, essv6490304, essv6225956, essv6366115, essv5551672, essv5811390, essv5875829, essv6418217, essv6574738, essv6028754, essv5719317, essv6451776, essv6281159, essv5395975, essv6497153, essv5550113, essv5768834, essv6449174, essv6303613, essv6522421, essv5715628, essv6336552, essv6485383, essv5680906, essv6179694, essv6392264, essv5418877, essv6237861, essv5890943, essv6189741, essv5586928, essv5867162, essv6123451, essv5461137, essv5841643, essv6357397, essv5779304, essv5652423, essv5871657, essv6043536, essv5453601, essv6055349, essv6344162, essv6293406, essv6019830, essv6444173, essv5434707, essv6538627, essv6158996, essv5639839, essv6157901, essv6248939, essv5487621, essv5938720, essv6116451, essv5954053, essv5762527, essv6040806, essv6405058, essv6556276, essv5774152, essv6198247, essv6367511, essv6569503, essv5525054, essv6057330, essv6114978, essv6103611, essv5418354, essv5888847, essv6308019, essv5728226, essv5714840, essv5720038, essv6442093, essv5817352, essv6043692, essv6175131, essv6585057, essv6035690, essv6555048, essv5689194, essv5698242, essv6272077, essv5553346, essv6272500, essv6474971, essv6487324, essv6370601, essv5775225, essv6188394, essv6153040, essv5721896, essv5452539, essv5456653, essv5631506, essv6171614, essv6456584, essv5573989, essv5709409, essv5562566, essv5868310, essv6387368, essv5883300, essv6355402, essv5666934, essv5634468, essv5716771, essv6147594, essv6454238, essv5661349, essv6467080, essv6141641, essv5558001, essv6437032, essv6479343, essv5412811, essv6118676, essv6338532, essv6117772, essv6460734, essv5538814, essv5936093, essv6356502, essv6305901, essv5950478, essv5943523, essv5467231, essv6147830, essv5635392, essv5577434, essv5882028, essv6107673, essv6357910, essv5966187, essv5905632, essv5976069, essv5522418, essv5508825, essv5795870, essv6084382, essv6524157, essv5514665, essv6586793, essv6422454, essv6425624, essv6098448, essv6322240, essv6480630, essv5840696, essv5772079, essv5779231, essv6481087, essv6419663, essv6566255
SamplesHG01357, HG01441, NA18870, NA19248, NA19312, NA12154, HG01440, NA18871, HG00328, NA18523, HG00437, HG00500, HG00112, HG00274, HG00464, NA19093, HG00131, NA20544, NA20796, NA19311, NA11918, NA19469, NA20346, NA19223, NA19435, HG01079, HG01389, NA20296, NA18516, HG01365, NA19334, HG00189, NA19788, NA19331, NA19453, NA20800, HG01082, NA18517, HG00428, HG00542, HG00139, HG01167, NA12058, NA18507, HG00683, NA20805, HG00111, HG00334, HG00187, HG00404, HG01101, NA19257, NA19701, NA20322, NA18505, NA20803, HG00353, NA18868, HG00269, NA12414, NA19077, HG01107, NA19463, HG00158, HG01148, NA11919, HG00346, HG01384, NA19239, HG01375, NA19390, NA12004, HG00308, HG01378, NA19917, NA20811, NA19675, HG00259, NA19443, NA18623, NA19471, HG01048, NA19107, NA19444, HG01061, NA20530, HG00692, HG01183, NA12273, NA12761, NA19429, NA19908, HG00149, HG00338, HG00533, NA18609, HG01360, NA11843, NA11831, NA11894, NA12400, NA20520, HG01253, NA11995, NA18916, HG00174, NA18593, HG00243, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, HG00343, NA12144, NA20341, NA19728, NA12751, NA19190, HG00306, HG00373, NA19247, NA19360, NA19725, HG00267, NA19313, NA19380, HG01437, HG01097, NA07346, HG01465, NA19129, NA19189, NA19372, HG01516, NA20291, HG01191, NA19374, NA20760, HG00732, NA19384, HG00325, NA12348, NA19716, NA20790, NA20795, NA19102, HG00263, NA20753, NA12275, NA18510, HG00176, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, HG00277, HG01351, NA20815, HG00740, NA20797, HG00524, HG01494, NA20542, NA19720, NA20766, NA12283, NA19328, NA18910, HG01383, NA19711, NA19777, HG00120, NA19235, HG01094, NA12891, NA12890, NA20525, HG01137, NA19921, HG01190, NA19138, NA19376, NA12272, NA20756, HG01095, NA18909, NA19391, NA19723, NA20276, NA12413, NA19009, NA12889, NA19116, NA19431, HG00118, NA19755, NA19818, HG00654, HG01390, NA12878, HG00530, NA11830, HG00285, NA19225, NA12546, HG00142, HG01366, NA18499, NA18924, NA19371, NA20543, NA19198, HG01108, NA20758, NA12045, NA19315, NA20792, NA11932, HG00566, NA19130, NA19756, NA19240, HG00320, HG00275, HG00625, HG00690, NA12717, HG00641, NA19350, NA18908, NA20804, HG01377, HG00704, NA19385, HG00271, NA19779, NA19466, HG00531, HG01354, HG00327, HG00323, NA20281, NA19137, NA12827, NA12718, HG00313, NA12043, NA19152, NA19445, NA19625, HG00152, HG00734, HG01359, NA12249, NA18861, NA19436, HG00318, HG00607, NA12750, NA12748, NA11930, NA07037, NA19321, NA20278, NA20809, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18561, NA20506, NA18933, NA19404, HG00127, HG01055, NA18874, HG01342, HG00369, HG00731, HG00245, HG00596, NA19783, NA19401, HG00736, NA20508, NA18570, NA19003, HG00707, NA18511, NA19455, HG01098, NA06989, NA12340, NA20802, NA20775, NA19430, NA19670, NA11931, NA19317, NA20808, HG01492, NA19451, NA20816, NA20529, NA19010, HG00375, NA19338, HG01491, NA18573, NA20778, NA20786, HG00553, NA19461, HG00190, HG01182, HG00106, HG01188, HG01204, NA12776, HG01461, NA19678, HG00578, NA11893, NA19108, HG00146, NA18488, NA19355, NA19474, NA12341, NA12044, NA19467, HG01551, NA18873, NA19147, NA19776, HG00479, NA19438, NA19654, NA20586, HG00247, HG01521, HG00256, NA18632, HG00244, HG00635, NA20532, HG00543, HG00154, HG01254, HG00321, HG00339, NA19726, NA19914, NA19428, NA18912, NA19383, NA19982, NA18624, HG01140, NA18508, HG01456, NA20819, NA12282, NA18566, HG00337, NA11994, HG00140, HG00638, NA12155, NA18960, NA18618, NA07357, NA20504, NA20757, HG00231, HG00372, NA20801, HG01047, NA20807, NA19396, NA20754, NA18856, HG00141, NA19397, HG00330, NA07048, NA18638, NA19398, NA19440, NA11933, NA20541, NA19774, NA20765, HG00419, HG00258, NA12829, NA19256, HG01113, HG01136, NA20282, NA19681, HG00254, NA19663, NA19679, NA12830, NA20589, HG00237, NA19684, HG00133, HG00114, HG01497, NA12006, NA19213, NA19676, HG00159, HG00620, NA19377, NA19153, HG00124, NA12046, HG00108, NA19172, NA19759, NA12892, NA19703, NA20536, HG00268, HG01066, NA19375, NA19393, NA20512, NA19373, NA18498, NA18923, NA20826, NA18486, NA06986, NA18522, NA19238, NA18502, NA19657, NA19713, NA20540, HG01073, NA19901, HG00282, HG01176, HG01356, NA18504, NA19704, NA20818, NA18487, NA18858, NA20774, NA19332, NA19909, NA18613, NA20582, HG00329, HG00512, HG01070, NA19707, HG01060, NA19382, NA19318, NA19462, NA18606, NA18543, NA11832, NA10851, NA20537, NA18552, NA20534, NA18983, NA18599, NA18907, HG00181, NA12749, NA20332, NA20799, NA06984, NA18867, NA19394, NA18565, HG00138, HG00663, NA12156, HG00262, HG01112, NA19719, NA19434, HG00311, NA18602, NA19099, NA20509, NA19452, NA20513, NA18533, HG00281, NA19327, NA11993, NA12399, NA20812, NA19916, NA19070, NA19470, HG01125, HG00251, NA19171, NA20768, HG00324, NA20528, NA18532, NA18853, HG01374, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA19473, NA20524, HG00684, NA19758, HG00336, NA20502, NA20517, NA20772, HG00345, NA19092, NA19468, NA20538, NA19200, HG00278, HG00136, NA18519, NA12775, HG01067, NA19439, HG00361, HG01198, NA11881, NA12489, HG00537, HG00252, NA07347, NA19712, NA18520, NA20771, NA18534, HG01353, NA18630, NA19819, NA12342, NA19437, NA19114, HG01173, NA11920, HG01083, NA20510, NA18501, NA20535, HG00155, NA20531, HG00160, NA19319, NA19359, HG01051, NA12828, HG00475, NA19449, HG00148, HG01350, NA18489, NA19379, NA20539, NA07051, NA19651, HG00280, HG01134, NA19682, HG00177, NA20798, HG00319, HG00737, HG00253, NA12287, NA20521, HG01171
Known GenesEPHB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660214
Frequency
Sample Size1151
Observed Gain0
Observed Loss598
Observed Complex0
Frequencyn/a


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