A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678689



Internal ID2911776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129415925..129416239hg38UCSC Ensembl
chr6:129737070..129737384hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5865536, essv6149469, essv5764179, essv6392130, essv6546220, essv6578979, essv5920275, essv5975359, essv5535770, essv5464556, essv5623573, essv5410911, essv5442201, essv6455405, essv6095726, essv6092656, essv5771703, essv5642511, essv6196123, essv5818657, essv5475335, essv6051226, essv5451785, essv5782820, essv6362213, essv6182462, essv5578882, essv6406600, essv6292358, essv5628234, essv6408891, essv6113853, essv6157087, essv6198871, essv6211254, essv5830484, essv5774892, essv6357071, essv5856661, essv5586672, essv6225585, essv5436624, essv6537302, essv5680805, essv6123049, essv5955398, essv6301319, essv5673946, essv5442762, essv6111291, essv6359660, essv6085668, essv5543553, essv6225659, essv5425222, essv6104133, essv5744199, essv5617437, essv5780487, essv5637113, essv5883360, essv5902828, essv6274607, essv6186641, essv6368248, essv6193648, essv5770596, essv6388236, essv6286413, essv5502294, essv6133506, essv5764704, essv5708244, essv6164457, essv5539472, essv5706249, essv5397016, essv5463827, essv5602451, essv6524587, essv6453931, essv6355880, essv5593583, essv6182451, essv5479183, essv6033105, essv5752621, essv6343597, essv5722220, essv5942396, essv5404458, essv5914336, essv5486898, essv6414562, essv6583729, essv5447863, essv6422604, essv6000179, essv6269453, essv5823426, essv6415537, essv5494199, essv6183063, essv5720502, essv6135580, essv6065181, essv5767814, essv6591460, essv5529127, essv6458582, essv5470685, essv5952607, essv6372072, essv6454441, essv5650226, essv5415054, essv5713896, essv5849067, essv6114110, essv5918702, essv5854626, essv5755261, essv6579675, essv6130434, essv6570702, essv5412067, essv5886784, essv6045695, essv5646390, essv6170482, essv5668979, essv6255941, essv5447371, essv5685507, essv6075988, essv6455962, essv6103890, essv6565205, essv6216343, essv5669004, essv5906991, essv5926286, essv6024185, essv6079558, essv5614592, essv5662197, essv5821253, essv5830149, essv6415682, essv5545969, essv6346265, essv6264699, essv6357088, essv6384331, essv5757836, essv6436573, essv5918380, essv5981999, essv5888641, essv5657281, essv6554193, essv5850996, essv6150740, essv5950767, essv6092695, essv5704161, essv5673405, essv6525967, essv5846988, essv6571473, essv5784786, essv6228100, essv5488680, essv5778741, essv6031784, essv5475029, essv6160261, essv5948416, essv6265491, essv6143110, essv6266222, essv5810040, essv6357687, essv5421173, essv6447674, essv5582794, essv6109268, essv6261103, essv5749872, essv5515867, essv5478559, essv6372641, essv5961940, essv6423215, essv5933671, essv5823003, essv6086803, essv5747626, essv5869654, essv5587804, essv6011385, essv5516474, essv6044975, essv5947573, essv6053230, essv5955394, essv5605735, essv5807657, essv5496057, essv5433156, essv6252584, essv5457671, essv5477439, essv5730349, essv6185189, essv5650119, essv6352877, essv6059100, essv5735287, essv5785204, essv5559275, essv5819762, essv6001284, essv5510601, essv5449277, essv5400895, essv5517325, essv6028441, essv5757648, essv5633675, essv5687085, essv6052148, essv6249947, essv5768898, essv6211938, essv6466923, essv6311289, essv6163948, essv5855197, essv6098593, essv6597385, essv5624417, essv6155097, essv6233223, essv6183366, essv6120313, essv6133693, essv6557357, essv5767544, essv6058367, essv5520677, essv5623291, essv5807663, essv6164421, essv6084237, essv5457447, essv5468534, essv6380121, essv6001137, essv5692807, essv5655706, essv5728204, essv5560273, essv6576735, essv6535097, essv6248409, essv5651503, essv6336272, essv5442308, essv6146167, essv5502516, essv5699779, essv5483460, essv5683117, essv6022802, essv5713724, essv6452536, essv5946620, essv5793488, essv6557492, essv5681938, essv6578142, essv6413415, essv5588743, essv6082890, essv6181626, essv5553211, essv5722807, essv6565768, essv6032823, essv6472839, essv5568418, essv6278135, essv6385599, essv6459391, essv5403939, essv5961815, essv6330574, essv5673872, essv6100422, essv6073593, essv6119710, essv6269455, essv6333641, essv6367505, essv6482726, essv6488311, essv5521329, essv5399612, essv6393485, essv6579977, essv6159213, essv6146294, essv6259757, essv6390201, essv6101190, essv5702324, essv6155269, essv6587072, essv6230819, essv5987609, essv5817480, essv5869851, essv6376282, essv5459019, essv5455847, essv5922583, essv5846968, essv5978250, essv5675287, essv5602193, essv6418325, essv6505354, essv6479732, essv6349618, essv5604647, essv6234434, essv5501661, essv5742275, essv6212849, essv5652717, essv5709838, essv5798080, essv5592120, essv6550178, essv6169175, essv6348316, essv5628388, essv5666333, essv6391433, essv6115631, essv5801491, essv6003362, essv5952323, essv6121395, essv6442600, essv6451603, essv6406342, essv5456072, essv6426826, essv5787863, essv5756254, essv6287517, essv6484721, essv5611058, essv5725966, essv5639521, essv5425801, essv6105734, essv5908662, essv5938036, essv6105310, essv6576368, essv6288102, essv5704994, essv6035537, essv6233560, essv6299293, essv5727589, essv6423256, essv5537684, essv6575172, essv6160955, essv6095346, essv5558773, essv5705220, essv5967709, essv5664255, essv5904449, essv5593598, essv6028366, essv5657455, essv5748323, essv5770053, essv6131055, essv6085489, essv6452380, essv6066809, essv6553117, essv5648917, essv5488767, essv5954105, essv5994711, essv5904855, essv6372434, essv5640622, essv5667610, essv6526219, essv5705182, essv6041924, essv6515601, essv5822672, essv6008985, essv6090211, essv6377193, essv5478955, essv5795335, essv6304580, essv6382114, essv5520576, essv6196306, essv6529982, essv5628969, essv6030774, essv5847658, essv6581535, essv6569792, essv6099992, essv5607874, essv6179221, essv5620329, essv5488819, essv5818131, essv5839752, essv5616519, essv6087070, essv5741409, essv6462809, essv5467325, essv5601069, essv5588677, essv5913331, essv6288820, essv5622817, essv6515501, essv5887230, essv6535549, essv6160273, essv6488333, essv6051415, essv5982756, essv5837781, essv6398583, essv6044742, essv5856478, essv5733460, essv6309199, essv6375171, essv6165566, essv5588051, essv6033883, essv6182057, essv5846071, essv6265699, essv6365615, essv6320037, essv5770995, essv6302360, essv5928584, essv5404268, essv6594407, essv6042175, essv6445656, essv5788091, essv5691246, essv5433547, essv6466312, essv5598232, essv6206243, essv6481616, essv5943541, essv6392963, essv5419074, essv6421905, essv6549313, essv6580870, essv5890765, essv5826896, essv6156161, essv6102147, essv5418295, essv6370162, essv5951632, essv5546031, essv6295373, essv6397918, essv6272933, essv5532437, essv6250058, essv6010310, essv5514038, essv6158239, essv5687590, essv5545368, essv6355767, essv6143286, essv5942485, essv6053653, essv6286044, essv5783192, essv6581003, essv6065555, essv5434120, essv6295566, essv6168928, essv6373500, essv6072385, essv5905268, essv5917526, essv5481702, essv5489122, essv6167198, essv6413285, essv6580563, essv5700394, essv5688841, essv6233555, essv6044325, essv6590609, essv6257909, essv5844920, essv5419313, essv6024531, essv5653698, essv5764148, essv5674148, essv5436036, essv6117085, essv6289799, essv6439844, essv5946833, essv6287309, essv5685715, essv5853538, essv6064733, essv6287295, essv5961584, essv6208376, essv5887744, essv6338550, essv6304892, essv6383871, essv6493395, essv6417671, essv6084404, essv6482548, essv6489056, essv5697557, essv5518960, essv5896768, essv5699428, essv5404205, essv6265526, essv6355685, essv5413108, essv5627510, essv5898059, essv5776449, essv6247296, essv6516129, essv6195948, essv6229245, essv6121020, essv6037915, essv6081962, essv6138123, essv6315139, essv6139565, essv5655861, essv6391576, essv5884857, essv6302900, essv6029664, essv6524681, essv5890430, essv5871126, essv6496805, essv6000788, essv6555334, essv6260183, essv5810363, essv5551009, essv6172305, essv6060328, essv5831490, essv5990415, essv6183539, essv5931467, essv6127215, essv6295908, essv6421403, essv5993301, essv5788316, essv6543029, essv6550875, essv5946260, essv5733556, essv6456735, essv6390157, essv6029040, essv6025573, essv6344025, essv5637458, essv5890917, essv6217137, essv6497419, essv5546970, essv5616441, essv6090108, essv6553228, essv6395446, essv6342256, essv6555946, essv6413638, essv5480694, essv6520635, essv6070260, essv5679602, essv6449628, essv5411529, essv6413687, essv6567046, essv6360617, essv5691864, essv6585384, essv6211540, essv5787299, essv6349725, essv5673364, essv6054645, essv6469337, essv6384462, essv6123191, essv5555394, essv5794243, essv6509925, essv6383981, essv6574599, essv6112062, essv5745428, essv6099288, essv6129855, essv5477506, essv5634342, essv6314056, essv5601285, essv5447075, essv6569737, essv6042264, essv6492976, essv6107518, essv5469948, essv5536450, essv5622932, essv5704712
SamplesHG01357, HG01441, NA19207, NA18870, NA19248, NA19312, NA12154, NA18871, HG00328, NA18523, HG00705, HG00437, HG00500, HG00112, HG00186, HG00464, NA19093, NA20544, NA20796, HG00565, NA19311, NA19469, NA19435, HG01079, NA20296, HG00463, NA18516, HG01365, NA19334, NA19788, NA19331, NA19453, NA20800, NA18953, NA18517, HG00428, NA18947, HG00139, NA18541, NA19144, NA12058, NA18507, HG00683, HG00111, HG00334, HG00581, HG00187, HG00404, HG00335, HG01101, NA19257, NA19701, NA20322, NA18505, NA19472, HG00353, NA18868, HG00554, HG00158, HG00556, HG01148, NA20505, NA12763, HG01384, NA19239, HG01375, HG00421, NA18635, NA19675, NA19197, NA19443, NA18623, NA19471, HG01048, NA19107, NA19444, NA20530, NA18990, NA18636, HG01124, NA18592, NA19083, NA12273, HG00315, NA12761, NA18956, NA19429, HG00338, NA18959, HG00533, NA18609, NA11843, NA19985, NA11831, NA11894, NA12400, NA18637, NA20520, HG01253, HG00284, NA19457, NA12144, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, NA19360, HG00233, NA19372, HG01516, NA18633, NA20291, HG00653, NA20760, NA20348, HG00732, NA19384, NA19716, NA20790, NA18986, NA19102, HG00263, NA19005, NA18510, NA19664, HG00265, HG00501, HG00672, HG01069, HG00249, NA11892, NA18961, HG00277, HG00103, HG01080, HG01351, HG00524, HG01494, NA20542, HG00525, NA12283, NA19328, NA18910, HG01383, NA19711, NA20813, HG00236, NA19777, NA18940, HG01094, NA12891, NA12890, HG00427, HG01137, NA18597, HG01190, NA19138, NA19376, NA19729, NA20756, HG01095, NA18909, NA19391, NA19723, NA19201, NA18538, NA12413, NA20518, NA19116, NA19431, NA20289, NA19747, NA20287, HG00118, NA18544, NA19755, NA19818, HG01390, NA18614, HG00530, NA18548, NA11830, NA20810, HG00123, HG00285, NA18944, NA19225, HG01366, NA18499, NA19732, NA18924, NA19371, HG00708, NA19198, HG01108, NA18610, NA19315, HG00566, NA11829, HG01177, NA19240, NA19346, HG00119, HG00320, HG00275, HG00690, NA12717, NA19204, HG00473, NA18981, NA19350, NA18615, HG00671, NA19087, HG00704, NA19385, HG00271, NA19661, NA19779, HG00126, NA19466, NA19746, HG00531, HG01354, NA18553, HG00323, NA20281, NA19137, NA12827, NA18964, NA12718, HG00313, NA12043, NA19152, NA19445, NA19625, HG00152, HG00734, HG01359, HG01518, NA12249, NA18861, NA19436, HG00318, HG00536, NA12750, NA11930, NA07037, NA19321, NA20522, NA20278, HG01250, NA20503, HG01072, NA20785, HG00100, NA18561, NA18933, NA19404, HG00127, NA07056, NA18874, HG01342, HG00369, NA18612, NA19783, NA19401, HG00449, HG00310, NA18570, NA19003, NA19072, HG00707, NA18511, NA19455, NA20294, NA18948, NA19430, NA12813, HG01492, NA19451, NA18972, NA20816, NA20529, NA19010, NA19338, NA20342, HG00326, HG01491, NA18573, NA18608, NA18542, NA19782, NA19461, NA19210, HG00106, NA19834, HG01188, HG01461, NA19648, NA20314, HG00651, NA19678, HG00557, HG00578, NA19108, NA18965, NA18488, NA19355, NA19474, NA19084, NA19780, NA12341, NA12044, NA19467, HG01551, NA18873, NA19147, NA19776, HG00479, NA19438, NA19654, HG00247, HG01133, NA18632, HG00342, HG00244, HG00266, NA19762, NA20532, HG00543, HG00154, HG01254, HG00321, HG00339, NA19914, NA19428, NA20585, NA18912, NA19383, NA19982, NA12843, NA20533, HG00250, NA18508, NA19054, HG01456, NA19059, NA20819, NA12282, NA20356, NA20515, HG00472, NA19652, HG00583, NA18566, NA11994, NA19660, NA12155, NA18576, HG00180, NA18563, NA18618, NA07357, NA19900, NA20504, NA19722, HG00610, HG00231, HG01495, NA18991, HG01047, NA19396, HG00628, NA19397, HG00330, NA18638, NA19398, NA19440, NA20541, HG00150, NA19774, NA18547, HG00258, NA12829, NA18976, HG01113, HG01136, NA18973, NA19835, NA20282, NA20336, HG00264, NA18982, NA19681, NA19679, HG00403, HG00237, HG00584, NA19316, NA19684, HG00133, HG00114, HG01497, NA12006, HG00436, HG00620, NA19377, HG00124, NA12046, NA19785, HG00108, NA18537, NA18620, NA12892, NA18572, NA19703, HG00268, NA19375, NA19393, NA20126, NA19373, HG00629, NA18498, NA18923, NA20826, NA18486, NA06986, NA18522, NA19238, NA20334, NA20344, NA18502, NA19657, HG00560, NA19713, NA19731, NA20540, NA19098, HG00239, NA19901, HG00273, HG00282, HG00232, NA18504, NA19704, NA20814, NA20818, HG00478, NA18564, NA18858, HG00116, NA19347, NA19332, NA19909, NA18613, HG00513, NA20582, NA18988, HG00329, HG00512, HG01070, NA19707, HG00246, NA18562, NA19074, NA19131, NA19159, NA19382, NA19318, NA18974, NA19462, HG00589, HG01149, NA18543, NA18999, HG00590, HG00595, NA20534, NA18983, HG00443, NA18599, NA18907, NA18567, HG00611, HG01334, NA20332, HG00650, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, HG01112, NA19719, NA19434, HG00311, HG00448, NA18602, NA19099, NA19446, NA19452, NA20513, NA12003, NA19770, NA19749, NA19327, NA18917, NA11993, NA19399, NA19717, HG00656, NA12842, NA19160, NA19655, NA18571, HG00422, NA19916, NA19070, NA19470, HG00367, NA18984, HG00693, NA18611, HG01125, HG00251, NA19171, HG00324, NA18549, NA18574, NA18853, HG00442, HG01374, HG00137, HG01462, NA19079, NA19381, NA19473, NA20524, HG00684, NA06994, HG00143, NA19758, HG00336, HG00476, NA19448, NA20517, HG00345, NA19092, NA19468, NA19200, NA19750, HG00278, NA19007, NA20519, NA19456, HG00136, NA07000, NA12775, NA18980, HG01067, NA19439, NA11881, HG00309, HG00157, HG00537, HG00252, NA18605, NA07347, NA19712, NA18520, NA18595, NA18616, NA19904, NA20527, HG00619, NA18534, HG01353, HG00418, NA19819, NA19437, NA19114, HG01173, NA11920, HG01083, NA20510, NA19209, NA18501, NA18526, NA20535, HG00155, NA20531, NA10847, NA18545, NA19319, NA20759, NA19359, HG00614, NA12828, HG00475, NA19449, NA19920, HG01350, NA18489, NA19379, NA20539, HG00698, NA18963, NA07051, NA19651, HG01134, NA19682, NA20798, HG00319, HG00737, HG00699, NA18557, NA12287, NA19761, HG01171, NA18596, NA18628, NA20340, NA19077, HG01107, HG01550, NA19463, HG00346, NA18967, NA19390, HG01378, NA19917, NA20811, NA18536, HG00096, HG01061, HG00692, NA19908, HG00125, NA19075, NA11995, NA18916, HG00276, HG01187, NA12777, NA19700, NA20341, NA12751, NA20769, NA19247, NA19313, NA19380, HG01437, NA19395, NA19786, NA19080, NA07346, NA19129, NA19771, NA19374
Known GenesLAMA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678689
Frequency
Sample Size1151
Observed Gain0
Observed Loss665
Observed Complex0
Frequencyn/a


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