A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675496



Internal ID9941601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:898386..898997hg38UCSC Ensembl
chr17:801626..802237hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5691634, essv6455664, essv6021860, essv6394647, essv6258158, essv6371440, essv6364365, essv5502917, essv6071233, essv6471916, essv5849483, essv6377126, essv6266305, essv5490910, essv6516692, essv6094678, essv5917055, essv6096855, essv5592211, essv5705501, essv5841053, essv6041080, essv6506612, essv6041284, essv5759300, essv5444933, essv5752525, essv6106612, essv6506249, essv5430817, essv5525777, essv6357039, essv6342299, essv5723846, essv5865116, essv5895873, essv5983458, essv6374320, essv5398160, essv6392673, essv6255834, essv5438441, essv5777504, essv5888848, essv6364347, essv5500816, essv5657665, essv5853255, essv5841508, essv5704211, essv5666113, essv6592860, essv5699814, essv5440233, essv6063342, essv6592032, essv5936643, essv6053612, essv5858786, essv6569341, essv5433693, essv5411479, essv6513693, essv5604489, essv6582096, essv5917349, essv5921209, essv5572444, essv5590876, essv5568898, essv6310419, essv5573309, essv6175422, essv5512339, essv5674475, essv5420800, essv6496115, essv5545210, essv6585465, essv6542734, essv6147015, essv5769166, essv5842974, essv5513198, essv5986163, essv6526991, essv6538365, essv5598195, essv5703588, essv5692963, essv5448944, essv6186047, essv6249844, essv6160401, essv5408414, essv5460836, essv6006358, essv6089549, essv5900503, essv6560201, essv5966670, essv6036794, essv6575914, essv6448041, essv5486566, essv5656453, essv5495241, essv5561097, essv6419536, essv5846410, essv5794609, essv5956828, essv6101758, essv5634025, essv5876583, essv6562076, essv6555824, essv6096637, essv5934775, essv6395239, essv5627845, essv6292550, essv5764872, essv6441249, essv5564494, essv5850526, essv6399073, essv5468501, essv6222539, essv6294618, essv5907803, essv5642570, essv5796957, essv5513833, essv5818792, essv5551337, essv5825245, essv5914826, essv5444472, essv6274363, essv5708789, essv6257508, essv5995106, essv5712205, essv6106929, essv6083063, essv5615471, essv6002776, essv5486779, essv6406856, essv5492377, essv6479090, essv6561875, essv6409086, essv5802352, essv5404546, essv5960375, essv6438536, essv6119780, essv5908058, essv5584830, essv6521279, essv6281425, essv5503472, essv6411336, essv5934996, essv5423216, essv6160056, essv6102953, essv6539035, essv6301191, essv5602975, essv6557456, essv6338523, essv5506282, essv5992640, essv5998209, essv6316667, essv5761720, essv5825469, essv6531152, essv5542800, essv5991384, essv6075278, essv6238201, essv6195592, essv5977401, essv5791878, essv6426637, essv5914599, essv5866185, essv5774055, essv6293546, essv5605751, essv6252798, essv5862440, essv5476156, essv5975263, essv5520175, essv6009194, essv6484453, essv5668305, essv5775704, essv5879332, essv5722888, essv5708165, essv5958727, essv5446329, essv6175676, essv6460284, essv5869193, essv6098686, essv5433649, essv6211116, essv6396612, essv5976630, essv5570905, essv5522716, essv6215757, essv5850831, essv5952287, essv6278914, essv6328578, essv5621363, essv6441749, essv5833950, essv5444419, essv5854391, essv6257605, essv6482505, essv5837893, essv5988419, essv6588531, essv5864015, essv6169962, essv6091161, essv5755349, essv5960871, essv5697877, essv6528945, essv6436537, essv6312557, essv6205721, essv6536606, essv6520010, essv6185391, essv5572465, essv5696651, essv5729296, essv5416730, essv5409564, essv5420793, essv6206689, essv6336964, essv6192022, essv5762050, essv6074826, essv5724326, essv6058084, essv5525632, essv5517203, essv6121023, essv6003490, essv6286867, essv5696771, essv6450032, essv6107823, essv5754007, essv6250860, essv5523720, essv5964708, essv6455848, essv5778651, essv5969435, essv5646062, essv6044447, essv5996951, essv5399945, essv6466779, essv6533894, essv5495019, essv5406813, essv5775069, essv6369040, essv5761577, essv5730769, essv6504378, essv6117550, essv5406485, essv6136555, essv5576045, essv6211900, essv6415883, essv5547601, essv5399858, essv5737225, essv5483023, essv6221535, essv6436698, essv6365389, essv5589845, essv5588815, essv6102427, essv6393709, essv5979981, essv6248722, essv6069245, essv5413888, essv6126352, essv5735261, essv5659211, essv6234825, essv6158371, essv6036415, essv6106108, essv5634716, essv6223600, essv5399469, essv5987142, essv5967527, essv5855283, essv5424434, essv6501187, essv6495433, essv5488455, essv6003447, essv6545132, essv6275064, essv6041580, essv5503153, essv5726258, essv6109017, essv5682926, essv5954957, essv6354964, essv5616006, essv5488445, essv6083405, essv5963780, essv6351101, essv6029193, essv5406548, essv6401386, essv6393492, essv5856053, essv6562478, essv6353711, essv6058475, essv5950068, essv6082829, essv5516795, essv6433405, essv6172876, essv6282180, essv5694094, essv5948905, essv5800300, essv5573103, essv5899870, essv5399479, essv6237557, essv5940929, essv6103885, essv5680946, essv5841120, essv6577815, essv6369382, essv5667805, essv5498096, essv6056228, essv5968852, essv5978899, essv5629470, essv6303186, essv6186576, essv6369728, essv6232144, essv6185050, essv5591868, essv6267308, essv5958725, essv5869195, essv6109516, essv5729673, essv5982048, essv5435256, essv6163767, essv5719109, essv6407807, essv6012093, essv5604417, essv6267647, essv5657832, essv6307005, essv6127613, essv6438011, essv6115185, essv6452120, essv6091373, essv6043453, essv5738005, essv6198734, essv6243669, essv5621747, essv6521329, essv6290901, essv6510864, essv6155064, essv6242321, essv6561889, essv6141683, essv5847810, essv5405430, essv5402478, essv6481833, essv5473407, essv5875916, essv5779229, essv6397863, essv6253832, essv6489624, essv5939885, essv5541686, essv5476301, essv5946428, essv6435575, essv6005555, essv6432370, essv5599946, essv6010055, essv6421418, essv6217709, essv6318465, essv5678621, essv5682526, essv5910591, essv5487223, essv6353783, essv5826195, essv5432201, essv5452871, essv6486478, essv6215547, essv5866334, essv6428354, essv6142171, essv5908062, essv5445155, essv5870616, essv6183331, essv6411259, essv5399702, essv5982863, essv6283206, essv5982273, essv5944540, essv5484078, essv6595657, essv6463812, essv5943700, essv6208262, essv5914819, essv5966728, essv6079793, essv6426457, essv6223686, essv6447138, essv6451165, essv6155335, essv5953542, essv6541796, essv6342356, essv5590760, essv5660738, essv5408124, essv6274009, essv6218342, essv5820539, essv6492089, essv6519097, essv5538376, essv5756781, essv6113766, essv6040327, essv5638944, essv5598554, essv5422752, essv5643462, essv5882036, essv6307530, essv6229451, essv6097381, essv5624720, essv6078917, essv6220140, essv6445156, essv6125275, essv6137822, essv6496485, essv5579053, essv5956779, essv5739446, essv5598782, essv5819399, essv5927680, essv5715255, essv6108344, essv6007725, essv6465316, essv5458506, essv5481333, essv6389735, essv6305894, essv6014734, essv5613034, essv5850824, essv5859622, essv6568120, essv6202914, essv5761388, essv6296707, essv6279775, essv5907718, essv5706878, essv5797536, essv6365602, essv6136863, essv6113524, essv5925488, essv5802397, essv6375203, essv5537241, essv5409513, essv5695942, essv6376201, essv6439868, essv6596685, essv5760089, essv6212374, essv6562139, essv5697871, essv6153095, essv6511568, essv6169930, essv6005581, essv5817924, essv5481763, essv6576893, essv6410423, essv6016955, essv5589438, essv6474791, essv6140836, essv6017786, essv5854581, essv5671229, essv6165765, essv5692076, essv6381554, essv5738168, essv6008591, essv5484719, essv6118007, essv6192599, essv5555917, essv5482963, essv5437898, essv6007937, essv6542617, essv6100508, essv5571350, essv6556035, essv6536047, essv5790877, essv5574918, essv6078647, essv5490690, essv6353763, essv5395588, essv6026293, essv5863710, essv6348428, essv6364976, essv6416126, essv6131208, essv6138131, essv6538665, essv5537781, essv6209191, essv5526584, essv6293961, essv6444771, essv5434434, essv5915821, essv5821482, essv5707356, essv6205349, essv6558216, essv6188088, essv6509851, essv5847392, essv6084509, essv6562941, essv5701444, essv5680442, essv5523219, essv5872319, essv6181180, essv5642105, essv6110925, essv5584409, essv5788234, essv5600240, essv5558468, essv5989244, essv5939001, essv5521578, essv5778841, essv6576636, essv5420828, essv6505299, essv5538211, essv6240028, essv5429629, essv5500940, essv6491402, essv5754057, essv6064119, essv6184917, essv5822079, essv6093824, essv5858002, essv5838733, essv5400175, essv6035155, essv5790624, essv5465463, essv5820697, essv5756371, essv5627996, essv6263302, essv5896904, essv6423759, essv6452230, essv6460415, essv6530919, essv6214007, essv6379390, essv6247242, essv6456513, essv5928106, essv6069129, essv6303054, essv5649998, essv6458923, essv5854869, essv6558537, essv5863128, essv5623998, essv6469062, essv6102769, essv6595355, essv6132316, essv6127921, essv6090630, essv6363561, essv5613486, essv5448051, essv6472533, essv5669397, essv6135535, essv5759388, essv5646067, essv5625678, essv6570516, essv6288577, essv6175901, essv6150379, essv5965636, essv5698422, essv6318213, essv6069931, essv6420474, essv5943000, essv6463379, essv5964951, essv6595784, essv6107570, essv5485956, essv5437469, essv6281128, essv5578988, essv6556782, essv6588625, essv6571506, essv6486768, essv6472888, essv6370960, essv6529932, essv6455047, essv5963177, essv5793913, essv6082203, essv6402582, essv5950546, essv5406996, essv6067486, essv6335737, essv6492253, essv5488102, essv6447763, essv5930514, essv6525893, essv5537014, essv6276040, essv5863129, essv6044919, essv5700276, essv6503632, essv5829949, essv6530550, essv5998207, essv6001944, essv5882866, essv6550109, essv6224375, essv5587372, essv5804490, essv6432985, essv5558695, essv6530725, essv6447694, essv6168032, essv5464414, essv5979302, essv5871092, essv6480411, essv5628850, essv6430831, essv5879960, essv5838121, essv6344289, essv5674423, essv6181643, essv5721825, essv5684778, essv5442141, essv5766742, essv6598076, essv5859781, essv5469660, essv6186908, essv6182996, essv6013185, essv6453499, essv6356018, essv5910497, essv5497771, essv6511560, essv5905071, essv5635801, essv6314943, essv5942208, essv5461666, essv5489160, essv6476138, essv5445438, essv6252749, essv5940761, essv5870202, essv5882029, essv6207795, essv5940255, essv5626745, essv5621840, essv5455554, essv6040448, essv6350452, essv5464375, essv6077335, essv5943447, essv5713316, essv5711449, essv6096729, essv6551220, essv5883236, essv5688560, essv6336846, essv6251432, essv6369556, essv5980982, essv6436345, essv5441660, essv6581241, essv6129893, essv6161774, essv6306556, essv5814347, essv5945308, essv5957564, essv5877516, essv5947730, essv6538221, essv5885612, essv6074295, essv5528896, essv6143346, essv6592094, essv6126835, essv5942743, essv5795411, essv5768968, essv5630379, essv6037236, essv6368390, essv5404167, essv5444246, essv5754836, essv5604391, essv6346300, essv5403109, essv6075921, essv5963719, essv6289121, essv5416752, essv6224041
SamplesNA20588, HG00189, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA20512, NA12751, NA19684, NA19377, NA18530, HG01461, NA19920, NA18633, NA12750, NA20806, NA19067, HG00337, NA12813, HG00138, HG01350, NA19379, HG00589, HG00122, NA19315, NA20798, NA20589, HG01177, NA19678, HG01167, NA20756, NA20795, NA18558, NA18547, NA18618, NA18574, NA07048, NA11918, NA18582, NA20768, HG01083, HG01365, HG00537, HG00311, HG00243, NA19079, NA18949, HG00158, HG00512, HG00281, HG00139, NA20759, NA19720, HG00335, NA20775, HG01519, NA20812, NA18868, NA18985, HG00326, NA20757, HG00323, NA19985, NA18867, HG01550, NA20515, NA19789, NA20755, HG00137, NA12777, NA18951, NA18605, NA20535, NA12489, HG00731, NA18538, HG00266, NA19070, NA19056, NA20521, HG01095, HG00657, NA20810, NA20760, NA19717, NA19663, NA19081, HG01498, NA12718, NA20519, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18907, NA18537, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, NA11893, HG00331, NA19750, NA19453, NA18532, NA06989, NA19059, HG01334, NA19009, HG00463, NA19318, NA12778, HG00126, NA19625, NA18593, HG01107, NA20799, NA19729, HG00611, NA19652, NA18533, HG00336, NA19434, NA18564, NA18628, HG00580, NA19444, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, HG00116, NA19083, NA18943, NA20281, NA19360, HG00662, NA18615, HG01342, NA12347, HG00614, HG00513, HG00478, NA19785, NA18631, NA19779, HG00267, NA18609, HG00112, NA19770, NA20826, HG00377, NA20503, HG00595, NA18989, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, NA18577, NA11832, NA20772, HG00593, HG00626, HG01060, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19397, NA19466, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, HG00100, NA19704, HG01188, NA11933, NA18599, HG01389, HG01374, HG00306, NA20813, NA18603, NA12045, HG00699, NA12004, NA18625, NA12058, HG00150, NA20507, NA18526, NA12400, NA12413, NA12341, NA20537, NA19068, HG01250, NA19660, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00702, HG00689, HG00173, NA19723, NA18635, NA19916, HG00330, NA20769, HG00634, NA18942, HG00736, HG00610, NA19649, HG01354, NA20540, NA19313, NA12287, HG00247, NA19054, NA20513, NA19681, NA20336, HG00590, NA20541, NA12761, HG01134, HG00277, NA19651, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, NA18560, NA19075, NA18617, HG01176, NA12889, HG00182, NA19002, NA19725, HG00637, HG00338, NA12828, HG00178, NA18908, NA18973, HG00530, HG00419, NA18638, NA12748, HG00108, NA20818, HG00543, HG01136, HG00188, HG00149, HG00560, NA18613, HG00629, NA19657, HG01360, HG00183, HG00176, NA19082, NA19707, NA20787, NA20524, HG01384, NA12342, NA19077, HG00428, NA19462, NA19347, NA20536, NA19391, HG00475, NA19982, HG00584, HG00500, NA18976, NA20770, NA20344, NA19776, HG01094, NA19000, NA19655, HG00373, HG01197, HG01383, HG01182, NA18853, NA20828, NA19756, HG00141, NA18536, NA20542, NA18576, NA20526, NA20296, NA19685, HG00476, NA20801, HG00119, NA18535, NA11881, NA19834, NA18952, NA18543, NA18559, NA12775, NA19749, HG00565, NA18950, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, HG00607, NA20504, NA19786, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, HG00312, NA19438, NA20582, HG00329, NA18987, NA12749, HG00174, NA12830, NA20807, NA19726, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, HG00472, NA07056, NA18505, NA19004, NA20322, HG00345, HG01097, NA18549, HG01191, HG00437, NA20509, NA12383, NA19701, NA20761, HG00542, NA12717, HG01173, NA12842, HG00143, NA19703, NA19909, NA20766, NA12286, NA20508, HG00671, NA19066, HG00242, NA10851, HG00559, NA12273, NA20783, NA18565, NA20514, HG01066, NA20816, NA20752, NA20802, HG00244, HG00181, NA12340, NA20332, NA18959, HG00737, HG00115, NA18616, HG00449, NA20517, HG00654, HG01051, NA20356, HG00261, NA20771, NA18510, NA12399, NA18602, HG01522, HG00693, NA18988, NA18627, HG00271, HG00663, NA20814, NA07346, NA18563, HG00641, NA19373, NA18940, NA18519, HG00272, HG01351, NA20774, HG01168, NA18923, NA18567, NA07347, NA19457, NA18571, HG00334, HG00185, NA19130, NA11930, NA20539, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, HG00534, NA19235, HG00705, HG00160, HG00118, NA18990, NA18557, HG01048, HG01133, NA20342, HG00253, NA18539, NA20753, HG00154, NA19908, HG00443, HG00268, HG01171, HG00380, HG00282, NA19670, HG00557, HG00245, HG00732, HG00368, NA20314, HG00556, HG00583, HG00263, HG00275, NA18579, HG01149, NA18534, HG00551, HG00239, HG00740, NA20525, NA19654, HG00324, HG00284, NA18573, NA11919, HG00651, HG00250, NA18626, HG00531, HG00479, NA20581, HG00684, HG01101, HG00140, NA18553, HG01497, NA19761, NA18555, HG00152, HG00146, NA18963, HG00704, NA12144, NA19469, HG00246, NA18570, NA12546, NA18541, HG01075, NA19012, NA18974, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, HG00265, HG00625, NA20276, NA19747, HG00353, NA20815, NA19072, NA12272, HG01551, HG00734, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, HG00473, NA20792, NA20778, HG00237, NA19679, HG01113, NA20544, HG01137, NA19783, HG00418, NA18610, HG01489, HG00620, HG00339, NA06994, NA19716, NA20510, NA18636, NA20289, HG00310, HG00280, NA11843, NA20758, NA19080, NA19780, NA19900, NA18983, NA20502, HG00147, NA19430, NA11892, NA19316, NA19312, HG01125, HG00171, NA12890, NA12006, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, HG00553, NA19676, NA18620, HG01516, HG00403, NA11830, HG01521, HG01098, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, HG00524, NA19914, HG00187, NA19332, NA20531, NA20532, HG00640, HG00367, HG00318, HG01465, HG00103, NA18545, NA20805, NA19777, NA19057, NA18596, HG01456, HG00566, NA18606, HG00179, HG00177, NA12155, HG01140, HG00327, NA18967, NA19374, NA19396, HG00127, NA20796, NA19005, HG01366, HG01070, HG00501, NA19448, HG00448, NA20586, NA18982, NA19198, NA18619, NA12348, NA11992, HG00346, NA12283, NA19771, NA19088, HG00369, HG00270, NA19782, NA18964, NA18611, NA19404, HG01455, HG01067, NA19383, NA18874, NA20819, NA06984, NA18977, NA19917, HG01072, NA19731, HG00422, NA19317, NA18986, HG01440, HG00309, HG00427, NA20811, NA19901, HG00159, NA19445, NA20533, HG00739, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA19437, HG01187, HG00596, HG00328, NA20505, NA12003, HG00190, HG00653, HG00577, NA18956, HG00701, HG00436, HG00320, HG00533, NA18637, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA20299, NA19774, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, HG00525, HG00321, HG00157, NA12827, HG00276, NA18634, NA20534, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, NA18608, HG00124, NA20522, NA18542, NA12716, HG01190, HG00285, NA19321, NA18961, HG00366, NA19473, NA19435, NA18941, NA20804, HG00278, NA19773, NA19380, NA20785, NA12046, NA19334, HG01494, NA19439, NA20516, NA20797, NA07037, NA19085, NA06986, HG00269, NA19398, HG00111, NA20348, HG01491, NA19060, HG00421, HG00656, NA20334, HG01254, HG01055, HG00123, HG00186, HG00698, HG00131, NA19213, NA20528, HG01251, NA19661, HG01378, NA19755, NA18488, HG01082, NA19758, NA07000, NA18522, HG00554, HG00180, NA18622, HG01061, NA18562, NA12776, NA18965
Known GenesNXN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675496
Frequency
Sample Size1151
Observed Gain0
Observed Loss826
Observed Complex0
Frequencyn/a


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