A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671575



Internal ID9937680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904710..209912632hg38UCSC Ensembl
chr1:210078055..210085977hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387923
hg197923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6294930, essv5735387, essv5554137, essv5967874, essv5528926, essv6068702, essv6018381, essv5650252, essv6061000, essv6034159, essv5600258, essv6584921, essv5644411, essv5683376, essv6598295, essv5573668, essv5904520, essv6177410, essv5938619, essv5861390, essv6567214, essv5793650, essv5521824, essv6150574, essv5415137, essv5644486, essv6262760, essv5620644, essv5457442, essv6491923, essv6521891, essv6573006, essv5610246, essv6547280, essv6401929, essv5744123, essv6339754, essv5890360, essv5800094, essv5449068, essv6198241, essv5867375, essv5875242, essv6319601, essv5802680, essv6545754, essv5585146, essv5765019, essv5552993, essv6329975, essv6197571, essv5954540, essv6452321, essv5563658, essv6426605, essv5839722, essv5955065, essv5849433, essv5725423, essv5447063, essv5905949, essv5555502, essv5648448, essv6361379, essv6220857, essv5430104, essv6419205, essv5810125, essv6539418, essv6394197, essv5590038, essv5577249, essv5458422, essv6184362, essv6465122, essv6563893, essv6007939, essv5880881, essv5869720, essv6284512, essv6286552, essv6284094, essv5937238, essv5687793, essv5886595, essv5626222, essv5995995, essv5496617, essv6409237, essv6025150, essv6431251, essv6114522, essv5583430, essv5833175, essv6243404, essv5906573, essv6157878, essv5784992, essv6292615, essv5701486, essv5753140, essv6210136, essv6111082, essv6307600, essv5920957, essv6122972, essv5747462, essv6379837, essv6107267, essv6592147, essv6051728, essv5583666, essv5819862, essv6471792, essv6026607, essv6143048, essv5916729, essv5559842, essv6536155, essv6506443, essv6483485, essv5913268, essv6292634, essv6231960, essv5534114, essv6476797, essv5558015, essv6188251, essv6191655, essv6043248, essv5973728, essv5986172, essv6376159, essv5884454, essv5738316, essv5680974, essv5429690, essv5513112, essv6175381, essv5766226, essv5425965, essv5432559, essv6211703, essv5727847, essv6475798, essv5720657, essv6049415, essv6475256, essv6084937, essv5861704, essv5991318, essv5686517, essv5893582, essv5786887, essv6412926, essv6063668, essv6195720, essv5917943, essv6521420, essv5794018, essv6273397, essv5633203, essv6163252, essv5560084, essv6447968, essv6430955, essv6057792, essv5595010, essv6366026, essv5887612, essv6014083, essv6511483, essv6120888, essv5671977, essv6398622, essv6344130, essv5950421, essv6393629, essv6055908, essv5515278, essv5652438, essv6003425, essv6486110, essv6516808, essv6466596, essv5695104, essv5588948, essv5977804, essv5646012, essv5799661, essv5794327, essv6307354, essv5954452, essv5832929, essv5655996, essv5601184, essv5800365, essv6554462, essv6192596, essv6448376, essv6193177, essv6164783, essv5642297, essv6523116, essv5510401, essv5767495, essv5716462, essv5968059, essv5824992, essv6292974, essv5807027, essv5406903, essv6182210, essv6290767, essv6086440, essv6518206, essv6484077, essv6482205, essv5685901, essv6364804, essv6199197, essv6096303, essv6486016, essv6306377, essv6184094, essv5456817, essv5993936, essv5995354, essv5883335, essv6151702, essv6315296, essv5726696, essv6414925, essv6313607, essv5445917, essv5620373, essv5478186, essv5529972, essv5939738, essv5799139, essv5523349, essv5455140, essv5706862, essv5550281, essv5847758, essv6441713, essv6255366, essv5843851, essv5522848, essv6497655, essv6338528, essv6339274, essv6367587, essv5573499, essv6521303, essv6468204, essv6017416, essv5899365, essv6339498, essv6555434, essv6256396, essv6547529, essv6368187, essv5804360, essv6123062, essv5593593, essv5474399, essv6382822, essv6015045, essv6404614, essv5765061, essv6247090, essv6084462, essv6476090, essv6292644, essv5884179, essv5676801, essv6501611, essv6201319, essv5954197, essv6474744, essv6587626, essv6558087, essv6395866, essv6474088, essv6046458, essv5403854, essv6358405, essv5640523, essv6011159, essv5588491, essv6402853, essv6211534, essv6075760, essv5776431, essv5958105, essv6037579, essv5778210, essv6470033, essv5512192, essv5826113, essv6300156, essv5636911, essv5810054, essv5722886, essv6415224, essv5631696, essv5443555, essv5785121, essv5812670, essv5767684, essv5557099, essv6291580, essv5893174, essv6587103, essv5681926, essv5982717, essv6165702, essv5531442, essv5406680, essv5898356, essv6346327, essv6326574, essv5998919, essv5669408, essv5627171, essv6128280, essv5578402, essv5854875, essv6323296, essv6098197, essv5562451, essv5752787, essv5678120, essv5637247, essv5691219, essv6518490, essv6491785, essv5610447, essv6273529, essv6230232, essv5662219, essv6575013, essv5929920, essv5701298, essv6119767, essv6143589, essv6060084, essv5763440, essv5515316, essv6578120, essv6307263, essv6190055, essv5686766, essv5646582, essv6303760, essv6074325, essv6060593, essv5870880, essv5592813, essv5549587, essv6356446, essv5889241, essv5700512, essv5759498, essv5890554, essv5823401, essv5495466, essv5986114, essv5795724, essv6240230, essv5804527, essv6018866, essv6363338, essv5584392, essv6024984, essv5734798, essv6452219, essv5883420, essv6519791, essv6212376, essv6574072, essv5575996, essv5741551, essv6256612, essv6020709, essv6256114, essv5779521, essv6257144, essv5766688, essv6009755, essv5930043, essv5738749, essv6311584, essv5625254, essv6379127, essv5517487, essv6172089, essv6567099, essv6318822, essv6579773, essv5890290, essv5463052, essv5746844, essv6144871, essv6532691, essv6433312, essv6305858, essv6370363, essv5450856, essv5651013, essv5778701, essv6098363, essv6531881, essv5973024, essv6367098, essv6519156, essv6332959, essv5863551, essv5949684, essv6445937, essv5481188, essv6217991, essv5827178, essv5423392, essv6444540, essv6164184, essv5906481, essv5452912, essv5826915, essv5752286, essv6238723, essv5589729, essv6158571, essv5926697, essv5980737, essv5667570, essv6114165, essv5490662, essv6479462, essv5837209, essv6489888, essv5676498, essv5963143, essv6340001, essv6565709, essv5988697, essv6232011, essv5750097, essv5990646, essv5823399, essv6145714, essv6387811, essv6378347, essv5787253, essv6070705, essv6021815, essv5683703, essv5541259, essv5854185, essv5765736, essv5499369, essv5721511, essv6099024, essv5898191, essv5409802, essv5721463, essv6255042, essv5791906, essv6158125, essv5690795, essv6565290, essv5628676, essv6061014, essv5487959, essv6571559, essv5534651, essv5741008, essv6419390, essv6424270, essv6414823, essv6541447, essv6436644, essv6117728, essv5593150, essv5935031, essv5904446, essv6487406, essv5968937, essv5837749, essv5442380, essv5861658, essv6066257, essv6561076, essv6283152, essv5860819, essv6588158, essv6453534, essv5461655, essv5935256, essv5506550, essv6350516, essv5889553, essv5838404, essv6382477, essv5797352, essv6522594, essv5478129, essv6506611, essv6406115, essv5731864, essv5933326, essv6280705, essv5519443, essv6538679, essv6481763, essv6586146, essv5756396, essv6257949, essv5577820, essv6427379, essv5712190, essv5734365, essv5545516, essv6025300, essv5918342, essv5541744, essv5670408, essv6510931, essv6545314, essv5487118, essv6329856, essv6040384, essv5763170, essv5721552, essv6266880, essv5548135, essv5971886, essv5474297, essv6516114, essv6502281, essv6275703, essv5836941, essv5666533, essv5524012, essv6453232, essv6291530, essv6364681, essv5864835, essv5757704, essv5572620, essv6324567, essv5663042, essv6050229, essv5925879, essv6461829, essv5481857, essv5601585, essv5492500, essv6016687, essv6415684, essv5785791, essv5643091, essv6244445, essv6463639, essv5891891, essv5513668, essv5444218, essv5562821, essv6587327, essv6234182, essv6184004, essv5968267, essv5624438, essv5611944, essv6529748, essv6184979, essv5886505, essv5861364, essv6355134, essv6036064, essv5397099, essv5473349, essv6552143, essv5678996, essv5988357, essv5876450, essv6393283, essv5641492, essv6214303, essv5668245, essv5428916, essv5676216, essv6018040, essv5685426, essv6521591, essv6533656, essv6097861, essv5570956, essv6030155, essv5800542, essv5722729, essv5558817, essv5539112, essv6187505, essv5791659, essv5854541, essv5421580, essv5895963, essv5993623, essv5732730, essv6134518, essv6512143, essv6392121, essv6037485, essv6285325, essv5939170, essv5866019, essv5448546, essv6386761, essv5910734, essv5816108, essv6172584, essv5503148, essv6272146, essv5965298, essv5688517, essv6353443, essv5779652, essv5555712, essv5941596, essv5786541, essv5617255, essv6545231, essv5742603, essv5957074, essv6518825, essv5932166, essv6165285, essv6155784, essv6479107, essv6000364, essv5685268, essv5955567, essv5947135, essv5790855, essv5872215, essv5823552, essv5667034, essv6069037, essv5836952, essv6015426, essv6131385, essv6251691, essv5787722, essv5853651, essv6420160, essv6215556, essv6050026, essv5581457, essv5779743, essv5456593, essv6494364, essv6301134, essv6574297, essv5739878, essv5732755, essv5934976, essv5863255, essv6320393, essv6337435, essv5882081, essv6585291, essv6363627, essv6035364, essv5751892, essv5772031, essv6298311, essv6234987, essv5504856, essv6458030, essv5527127, essv5820340, essv6572116, essv6550605, essv5735847, essv6285137, essv6595840, essv6550748, essv6473275, essv5482307, essv6434306, essv6348219, essv5793447, essv6073019, essv5768955, essv6078977, essv5494086, essv6584564, essv5875584, essv6247104, essv5699975, essv5549565, essv6592661, essv6100869, essv6423034, essv6151662, essv5677805, essv5730527, essv5424574, essv6339457, essv6401903, essv5597059, essv6276071, essv5742168, essv6274068, essv5525289, essv5661543, essv6209050, essv5409128, essv6372762, essv5821060, essv6025986, essv6398587, essv5525429, essv6070492, essv5977100, essv5696485, essv6090404, essv5928703, essv6094193, essv6512583, essv5859065, essv5778322, essv5790094, essv6304383, essv5902027, essv5486559, essv5420155, essv6080308, essv5712825, essv6258856
SamplesNA18502, HG00189, HG00650, HG00442, NA19058, HG00608, HG00142, NA18947, NA19664, NA19399, NA12414, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA12751, HG00153, NA19684, HG01518, HG01461, NA12750, NA20806, NA19067, HG00337, NA12813, HG00138, NA19379, HG00589, HG00122, NA19315, NA20589, HG01177, NA19678, HG01167, NA18558, NA18547, HG01492, NA18960, NA18916, NA18574, NA07048, NA11918, NA18582, HG01083, HG01365, NA19384, HG00537, HG00243, NA19079, NA18949, HG00158, HG00512, HG00281, HG00139, NA20759, HG00335, NA20775, HG01519, NA20812, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, NA20757, HG00323, NA19985, NA18867, HG01550, NA19789, NA20755, NA12777, NA18951, NA18605, NA12489, HG00731, NA20800, NA18538, NA19056, HG01095, HG00657, NA20810, NA19717, NA19663, HG00344, HG01498, NA12718, NA20519, NA18572, NA18948, HG00692, NA19064, NA18907, HG01102, NA19084, HG00690, HG00404, NA11893, HG00331, NA19453, NA18532, NA06989, NA19059, HG01334, NA19009, NA19452, NA18523, HG00463, NA12778, NA19395, HG00126, NA19625, NA18593, HG01107, NA19729, HG00611, NA19652, NA19440, NA18533, HG00336, NA19256, NA18517, NA19712, NA19434, NA18564, HG00580, NA19331, HG01174, NA19428, HG00116, NA12763, HG00662, NA18615, HG01342, NA12347, HG00614, HG00513, HG00478, NA19785, NA18631, NA19779, NA18609, NA19102, NA18873, HG00112, NA19770, NA20826, HG00377, NA20503, NA19129, HG00628, NA19065, NA18612, NA19429, NA19074, NA18487, NA18577, NA11832, NA20772, HG00096, HG00114, NA19700, HG00592, NA19055, NA19397, NA18924, NA11995, HG01052, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, NA20813, NA12045, NA19092, NA19819, NA12004, NA12058, NA20808, HG00150, NA20507, NA19190, NA19098, NA18526, NA12400, NA12413, NA12341, NA20537, HG01250, NA19746, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00702, HG00689, HG00173, NA18635, NA19916, HG00330, NA20769, NA18942, HG00736, HG00610, NA19197, HG01354, NA20540, NA19313, NA12287, HG00247, NA19054, NA18498, NA20513, HG01110, HG00590, NA20541, NA12282, NA12005, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, NA20340, NA18617, NA19471, HG01176, NA12889, NA19159, NA19002, NA19725, NA18520, HG00637, HG00338, NA19209, NA12828, HG00178, NA18908, HG00419, NA19451, NA12748, HG00464, HG00108, NA19007, HG01136, NA19247, NA18613, HG00629, NA19657, HG01360, HG00176, NA19707, NA20787, HG01384, NA19077, NA19462, NA19347, NA19391, NA19327, HG00475, HG00584, HG00500, NA19788, NA18910, NA18976, NA19776, NA19000, NA19655, HG01197, NA18499, NA12892, HG01182, NA18853, NA20282, NA20828, NA19756, HG00141, NA18536, NA20542, NA18576, NA20296, NA19401, HG00476, NA20801, HG00119, NA19834, NA19108, NA18559, NA12775, NA19749, NA18950, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, NA20504, NA19786, HG00319, NA20803, HG00256, HG00125, NA19759, NA19376, NA19078, HG00707, HG00672, NA19248, HG00312, NA19438, NA20582, NA19472, HG00329, NA18987, NA12749, NA19713, HG00174, NA12830, NA20807, NA19726, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, NA07056, NA18505, NA19004, HG00345, HG01097, NA18549, HG00437, NA19153, NA20509, NA19394, NA12383, NA19701, NA20761, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA19909, NA20766, NA12286, NA20508, NA19066, HG00242, NA19204, NA18861, NA10851, HG00559, NA12273, HG01066, HG00315, NA20816, NA20752, NA20802, HG00244, NA19350, HG00181, NA19359, NA20294, NA19355, NA12340, NA18959, HG00737, HG00115, HG00449, HG00654, NA19443, NA20356, NA18510, NA12399, NA18602, HG01522, NA18627, HG00271, NA19107, HG00663, NA20814, NA07346, NA18563, HG00641, NA18940, NA19319, NA18597, HG01351, NA20774, HG01168, NA18567, NA07347, NA19457, NA18571, HG00334, NA20287, NA19130, NA11930, NA12275, HG01069, HG01080, NA20278, HG00148, NA12156, HG00325, NA11932, HG00232, NA19372, NA11994, NA19207, HG00705, NA19722, HG00160, HG00118, NA18990, NA18557, HG01048, HG01133, HG00253, NA18539, NA20753, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19670, NA19403, HG00245, NA18933, NA19455, NA20314, HG00556, HG00583, HG00263, NA18579, NA18871, HG01149, NA18534, HG00551, HG00239, NA20525, HG00324, HG00284, NA18573, NA19461, NA11919, HG00250, NA18626, HG00531, HG00479, NA20581, HG00684, NA18912, HG01101, NA18553, NA19099, NA19761, NA18555, HG00152, HG00146, NA18963, NA12144, NA19469, NA18570, NA18858, NA12546, HG01075, NA19012, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, HG00265, NA19147, HG00625, NA20276, NA19072, NA12272, HG01551, HG00734, HG01357, NA20530, NA20527, HG01375, HG00473, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, NA19783, HG00418, NA18610, HG01489, HG00620, HG00339, NA18501, NA06994, HG00259, NA19716, NA19474, NA19093, NA20510, NA18636, HG00310, HG00280, NA11843, NA20758, NA19116, NA19711, NA19900, NA18983, NA19430, NA11892, HG01111, NA19316, HG01125, HG00171, NA12890, NA12006, NA19463, NA20585, NA12154, NA20754, NA19346, HG00553, NA19676, NA18620, HG01516, HG00403, NA11830, HG01521, HG01356, NA20543, HG00536, HG00249, NA11829, HG00361, HG00524, NA19914, NA19332, NA20531, NA20532, NA18917, HG00640, HG00318, NA18486, HG01465, NA18545, NA19393, NA20805, NA19777, HG01456, HG00566, NA18606, HG00179, HG00177, NA12155, NA07357, HG01140, HG00327, NA18967, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, HG01070, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA18982, NA19198, NA18619, NA12348, NA11992, HG00346, NA12283, NA19771, NA19138, NA19782, NA19404, HG01455, NA19383, NA18874, NA20819, NA18977, HG01495, NA19917, NA19137, HG01072, NA19385, HG00422, NA18986, HG01440, HG00309, HG00427, NA20811, HG00159, NA19445, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA19210, HG01187, NA18934, HG00596, HG00145, HG00328, NA20505, NA19152, HG00190, HG00653, HG00577, NA18956, HG00701, NA19236, NA18516, HG00320, HG00533, NA18637, NA20506, NA19658, HG00619, HG00708, NA18566, HG01073, HG00273, NA19114, NA19774, NA20538, NA18856, NA12249, HG00117, HG00613, HG00525, HG00321, HG00157, NA12827, HG00276, NA20534, NA19675, HG01204, NA19436, NA20765, NA18608, HG00124, NA20773, NA20522, NA18542, NA18909, HG01190, HG00285, NA19321, NA18961, HG00366, NA19473, HG00357, NA19435, NA18941, NA20804, NA19773, NA19380, NA19144, NA20785, NA12046, NA19334, NA19467, NA20516, NA07037, NA06986, HG00269, NA19398, HG00111, NA20348, NA18971, HG00421, HG00656, NA20334, HG01254, HG01055, HG00123, HG00186, NA19213, HG01251, HG01378, NA19755, NA18488, HG01082, NA19758, NA18511, NA07000, NA18522, HG01112, HG00554, HG00180, NA18622, HG01061, NA18562, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671575
Frequency
Sample Size1151
Observed Gain0
Observed Loss742
Observed Complex0
Frequencyn/a


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