A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662878



Internal ID9928983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12242077..12242399hg38UCSC Ensembl
chr7:12281703..12282025hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5994268, essv6594417, essv6523219, essv5414124, essv6043024, essv5973050, essv5569199, essv5428268, essv6179951, essv6512225, essv6179037, essv5900140, essv5775127, essv6387250, essv6459818, essv5704388, essv6556824, essv6505167, essv5554119, essv5842914, essv5647944, essv5987282, essv5661398, essv5702387, essv5622372, essv5537694, essv6472502, essv6073453, essv6310818, essv6104131, essv5398002, essv5961670, essv6053769, essv5636259, essv6546316, essv5983692, essv5818423, essv5854673, essv5519584, essv5399544, essv5761466, essv6096122, essv5482225, essv5403897, essv5499457, essv6207335, essv5923064, essv6003468, essv6114510, essv5565546, essv5446646, essv5414574, essv6520099, essv6234959, essv5440710, essv5410054, essv6345049, essv5824204, essv5899656, essv5873088, essv5856561, essv5666793, essv5927540, essv5842174, essv5404084, essv5581788, essv5818873, essv6317532, essv6253707, essv6371792, essv6071381, essv6135678, essv5855858, essv6269884, essv5641371, essv5574224, essv6072270, essv6166228, essv6517899, essv6065366, essv5972941, essv5641284, essv5840266, essv5970323, essv6243886, essv5476698, essv5539148, essv5695015, essv5580195, essv6596979, essv5821162, essv6393240, essv5446969, essv5504257, essv6042790, essv6283031, essv6018913, essv5857518, essv5427647, essv6432756, essv6175602, essv6059442, essv6374715, essv5401397, essv5548585, essv6117532, essv5894900, essv6358868, essv5904485, essv5749815, essv6485244, essv6251821, essv6145358, essv5519844, essv5464663, essv5792651, essv5507175, essv6423709, essv6181919, essv5995716, essv5838352, essv5834855, essv5664888, essv6542989, essv6273036, essv6268088, essv5964448, essv5471746, essv6489146, essv5988253, essv6513450, essv6438203, essv6583724, essv6560275, essv5961462, essv5625214, essv6588685, essv6494132, essv5995903, essv5845261, essv5894859, essv5536995, essv5553855, essv5451599, essv6276768, essv5790130, essv6322843, essv6196342, essv5875492, essv6397506, essv6562111, essv6221698, essv6528909, essv5944141, essv6525111, essv5515232, essv5593345, essv5422053, essv6453428, essv6402460, essv5507036, essv6075096, essv5781798, essv5777171, essv6276262, essv6589467, essv6130614, essv5637872, essv5791273, essv6558594, essv6485136, essv5600517, essv6439651, essv5658352, essv5430721, essv6579834, essv6557929, essv5859792, essv5793435, essv5587766, essv6263562, essv6471149, essv6302319, essv5409931, essv5819621, essv5564724, essv5848420, essv6588910, essv6299406, essv6049017, essv6156272, essv5567686, essv6340872, essv6026847, essv5953375, essv5534600, essv6334208, essv5711750, essv6296988, essv5562519, essv5991301, essv5985295, essv5472408, essv6483609, essv6476979, essv6105159, essv6283560, essv5808487, essv5494131, essv6103043, essv6137641, essv5772562, essv5937098, essv5501632, essv5847253, essv6459462, essv5837130, essv5594849, essv5517991, essv6133678, essv5468012, essv5891416, essv5917199, essv6267799, essv6235465, essv6071155, essv6449080, essv5418671, essv6164530, essv5650984, essv5690994, essv6560496, essv6225870, essv5804189, essv5687892, essv5523870, essv5465517, essv6491430, essv6114415, essv6508518, essv5678384, essv5540819, essv6283583, essv5957804, essv6198095, essv6172784, essv6094354, essv5647741, essv5675453, essv6259470, essv5899548, essv5684145, essv5881953, essv5948801, essv5876124, essv6394659, essv6287054, essv5889940, essv5876011, essv5402269, essv6049779, essv5755495, essv6507759, essv5493262, essv6433268, essv6390900, essv6376543, essv5554885, essv5977188, essv5833629, essv6512151, essv5635205, essv5879875, essv5720104, essv5504581, essv6552875, essv5638947, essv5616001, essv5822764, essv6251070, essv5577849, essv6399415, essv6345732, essv6564078, essv5874424, essv5410820, essv6262792, essv6304522, essv6155794, essv6434716, essv6403825, essv5979471, essv5799457, essv5659306, essv6430627, essv5542616, essv5769193, essv6568549, essv5424987, essv6228020, essv5610451, essv6087662, essv5472935, essv6342677, essv5600188, essv6295935, essv6186297, essv6577170, essv5671402, essv5444843, essv6438403, essv6565228, essv6320309, essv5605195, essv6211271, essv6462258, essv6186874, essv5509579, essv5873545, essv5582520, essv6245098, essv5682136, essv6042364, essv6003922, essv5806529, essv6501456, essv5845930, essv5905496, essv5872816, essv5477353, essv6491723, essv6422409, essv5606147, essv5960743, essv6448628, essv5961099, essv6422208, essv5609726, essv5644292, essv5818365, essv5657993, essv5541971, essv5553738, essv5592178, essv5509170, essv5905680, essv6354221, essv6571756, essv5646264, essv6272715, essv5883357, essv5574121, essv6324291, essv6085519, essv5839746, essv6430719, essv6109424, essv6177489, essv6137262, essv5825020, essv5819728, essv6219586, essv6156024, essv5515596, essv6095626, essv5811097, essv5732459, essv5630083, essv5599178, essv6097482, essv6064652, essv5525582, essv6555781, essv5954913, essv6477895, essv5693251, essv6459268, essv5721208, essv5463724, essv6038639, essv5644153, essv6164029, essv6497897, essv6293602, essv5593326, essv5991700, essv5439473, essv6485075, essv6229985, essv6318582, essv5802081, essv6367085, essv6313266, essv5402998, essv6271794, essv6500857, essv6539950, essv5714033, essv6029321, essv6163331, essv5746409, essv5430335, essv6480110, essv5494398, essv6076852, essv5817866, essv6396444, essv5983170, essv6183694, essv5778747, essv5950554, essv6057615, essv5665852, essv6414788, essv6056403, essv5669819, essv6544788, essv5498647, essv6050246, essv5419756, essv5800827, essv5536545, essv6150766, essv5850684, essv5783802, essv6100454, essv5428273, essv6211343, essv6005567, essv5745540, essv5861099, essv6419822, essv5987387, essv5444580, essv5663666, essv5824326, essv5776548, essv5804634, essv6330385, essv5509316, essv5498566, essv5528718, essv6219074, essv6197506, essv5665409, essv6129918, essv6200637, essv6499466, essv6127697, essv5967235, essv5909861, essv5541466, essv6158220, essv6031240, essv6370019, essv6085997, essv5566831, essv5631747, essv5603829, essv5847963, essv5913200, essv5592666, essv5542099, essv6576761, essv6059847, essv5900460, essv5868966, essv5431905, essv6019454, essv6266072, essv5676725, essv6516860, essv6122683, essv5580260, essv6002420, essv6473309, essv5999173, essv5473432, essv6064925, essv5570555, essv6399269, essv5606484, essv5503022, essv5397665, essv6572409, essv6556940, essv5905436, essv6306381, essv5658946, essv6086673, essv5850708, essv5826544, essv6574542, essv5824407, essv5612345, essv5443239, essv6278142, essv5832523, essv5675704, essv6520933, essv6279487, essv5667758, essv6261082, essv5562215, essv6186646, essv6007298, essv6247949, essv6246652, essv5678392, essv5838124, essv5601920, essv5633809, essv5573361, essv6569556, essv6030154, essv5971733, essv6130640, essv6310514, essv5767623, essv5564993, essv5497044, essv6441396, essv5907858, essv5693804, essv5837419, essv5674735, essv6124625, essv5454475, essv6132883, essv5603055, essv6361648, essv6040507, essv6456181, essv5862550, essv5585292, essv5572894, essv6231139, essv5983717, essv6231742, essv5432515, essv5934143, essv5705768, essv6051307, essv6006119, essv5745153, essv5905258, essv5455573, essv5429446, essv6386809, essv6038364, essv5825980, essv5542085, essv6389155, essv6207663, essv5645433, essv6590156, essv6437775, essv6287601, essv5953055, essv5901906, essv5509556, essv6054316, essv5806982, essv6066301, essv5412097, essv5534770, essv6298112, essv5828345, essv5565491, essv5418590, essv6500444, essv6487654, essv6123019, essv5636702, essv6241163, essv6130876, essv5829103, essv5622574, essv5464079, essv6162247, essv5894858, essv6490995, essv6040131, essv6486981, essv6415852, essv5731249, essv6060864, essv6007873, essv5468287, essv5687279, essv5482589, essv5434302, essv6308213, essv6059419, essv6454870, essv5850693, essv5752979, essv6596226, essv6170477, essv5961650, essv5881275, essv6274752, essv6124669, essv5803993, essv6335692, essv5703040, essv5540447, essv6495111, essv5919885, essv5576572, essv6014747, essv5497951, essv5721682, essv5816707, essv5819547, essv5707458, essv5999584, essv5802474, essv6414998, essv5831298, essv6434956, essv6261341, essv5838171, essv5596363
SamplesNA20588, NA18502, HG00650, HG00442, NA19058, HG00608, NA18621, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA12751, NA18504, NA19684, NA19377, HG01461, NA19920, NA18633, NA19067, HG00337, NA19446, HG00138, NA19171, HG01350, NA19379, HG00589, NA19315, NA18558, NA18547, NA18960, NA18916, NA18574, NA11918, NA18582, NA19384, HG00537, HG00243, NA20291, NA19079, NA18949, HG00512, HG00139, NA19720, HG00335, HG01519, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, HG00323, NA18867, HG01550, NA19789, NA18605, NA12489, NA18538, NA19056, HG01095, HG00657, NA19717, NA19663, HG00344, HG01498, NA12718, NA20519, NA18572, NA18948, HG00692, NA19064, NA18548, NA18907, NA18537, HG01047, NA19084, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA06989, NA19059, NA19009, NA19452, NA19682, NA18523, HG00463, NA19395, NA19625, NA20799, NA19729, HG00611, NA19440, NA18533, NA18517, NA19712, NA19434, NA18564, NA18628, HG00580, NA19331, HG01174, NA19470, NA19428, NA18943, NA19360, NA12763, HG00662, HG01342, NA19328, HG00614, HG00513, HG00478, NA18631, NA19223, NA19779, HG00267, NA18609, NA19102, NA19770, NA20503, HG00595, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, HG00581, NA18577, HG00593, HG00626, HG00096, HG01060, HG01441, NA19700, HG00592, NA19055, NA19397, NA18592, HG01359, HG01052, NA18980, HG01079, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, NA18603, NA12045, NA19092, HG00699, NA19819, NA12058, NA20346, NA20507, NA19190, NA19098, NA18526, NA12413, NA12341, NA19068, HG01250, NA19660, NA19076, NA18550, HG00251, NA18489, NA18595, HG00702, HG00689, NA19723, NA19916, HG00330, NA20769, HG00634, NA19131, NA18942, HG00610, NA19649, NA19313, NA12287, NA19054, NA18498, NA20513, NA19681, NA20336, HG00590, HG00683, HG00106, HG01170, HG00236, NA19371, NA18560, NA18617, NA19087, HG00182, NA19725, NA19189, NA18520, HG00637, HG00338, NA18973, HG00530, HG00419, NA18638, HG00464, HG00108, NA19007, HG00543, HG01136, HG00560, NA19247, NA18613, NA19657, HG01360, NA19707, NA20787, HG01384, NA12342, NA19077, HG00428, NA19462, NA19347, NA20809, NA19391, HG00475, NA19982, HG00584, HG00500, NA19788, NA18976, NA20770, NA20344, NA19776, HG01094, NA19000, NA19655, HG01197, HG01383, NA18853, NA20282, NA19225, NA20828, NA19160, NA18536, NA20542, NA18576, NA19401, NA11881, NA19108, NA18952, NA18543, NA18559, HG00565, NA18950, HG00375, NA19732, HG01253, HG00136, HG00638, HG00607, NA20504, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, HG00578, HG00312, NA19438, NA20582, NA19472, HG00329, NA19713, HG00174, NA19726, NA18972, NA18552, HG00372, HG00252, HG01377, NA07056, NA18505, NA19004, NA20322, HG00345, NA18549, HG01191, NA19153, NA19394, HG00542, NA12717, HG01173, NA19703, NA19909, HG00671, NA19066, HG00242, NA18861, NA18508, HG00559, NA12273, NA18565, HG01066, HG00315, NA19350, NA19359, NA20294, NA19355, NA20332, NA18959, HG00737, NA18616, HG00449, NA20517, HG00654, NA19443, HG01051, NA20771, HG00693, NA18988, NA18627, HG00271, NA19107, HG00663, NA07346, NA18563, HG00641, NA19373, NA18940, NA18519, HG00272, NA18597, HG01351, HG01168, NA18923, NA18567, NA19457, NA18571, NA20287, NA19904, NA19130, NA11930, NA12275, HG01069, HG01080, NA12156, HG00156, HG00325, NA11932, HG00232, NA19372, NA12044, HG00534, HG00705, NA19722, HG00160, NA18990, NA18557, HG01048, HG01133, NA20127, HG00253, NA18539, HG01124, HG00154, HG00443, HG00268, HG00380, HG00282, NA19670, NA19403, HG00557, HG00245, NA18933, NA19455, NA20314, HG00556, HG00583, HG00275, NA18579, NA18871, NA18534, HG00239, NA19654, HG00324, HG00284, NA18573, NA19461, NA11919, HG00651, HG00250, HG00531, HG00479, NA18912, HG01101, HG00140, NA19099, NA19761, NA18555, HG00146, HG00704, NA19469, NA18570, NA18858, HG01075, NA19012, NA18974, NA18953, HG01148, NA19375, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, HG00625, NA19747, HG00353, NA20815, NA19072, HG00734, HG01357, NA20527, HG00473, HG00237, NA19324, NA19311, NA20544, HG00418, HG01489, HG00620, HG00339, NA18501, HG00259, NA19716, NA19093, NA18636, HG00280, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA19316, NA19312, HG01125, NA18968, NA19463, NA20585, NA12154, NA20754, NA19676, NA18620, HG01516, HG00403, NA11830, HG01098, NA20543, HG00536, HG00249, NA11829, HG00524, NA19914, NA19332, NA18486, HG01465, HG00103, NA18545, NA19393, NA19777, NA18596, HG01456, HG00566, NA18606, HG00179, NA18870, NA07357, HG01140, NA19374, NA19396, HG00127, NA19381, NA20796, NA18944, HG01366, HG01070, HG00501, NA19382, NA19448, HG01488, NA20586, NA19119, NA19198, NA12891, NA11992, NA12283, NA19088, NA19138, HG00369, NA18964, HG01067, NA19383, NA18874, NA06984, NA19917, NA19137, NA19731, NA19385, HG00422, NA18986, HG01440, HG00427, NA20811, NA19901, HG00159, NA19456, HG00739, HG00260, NA18614, NA10847, HG01353, HG00133, HG01183, NA18544, NA19210, HG01187, NA18934, HG00596, HG00145, HG00653, HG00577, NA18956, HG00701, NA18516, HG00436, HG00320, HG00533, NA18637, NA20506, NA20126, NA19658, HG00619, HG00708, HG00635, HG01390, NA18566, NA19114, NA19774, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00525, NA12827, NA19257, HG00276, NA18634, NA19675, NA18945, HG01204, NA19436, NA18546, NA20522, NA18542, NA12716, NA18909, HG01190, HG00285, NA19321, HG00357, NA19435, NA18941, NA19240, NA19380, NA19144, NA12046, NA19334, NA19439, NA20516, NA19085, NA06986, HG00111, HG00421, HG00656, HG01254, HG00186, HG00698, HG00131, NA19213, NA19661, NA18488, HG01082, NA19758, NA18511, NA07000, NA18522, HG00554, HG01061, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662878
Frequency
Sample Size1151
Observed Gain0
Observed Loss624
Observed Complex0
Frequencyn/a


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