A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674959



Internal ID9594378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243619443..243620461hg38UCSC Ensembl
chr1:243782745..243783763hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6315755, essv5969427, essv6357020, essv5890526, essv6317193, essv5602184, essv6226021, essv5454082, essv6040480, essv5853307, essv5827640, essv6582956, essv5692467, essv5401848, essv5656226, essv5923242, essv5771318, essv6537754, essv5466044, essv5556795, essv5482231, essv5506859, essv6434508, essv5914829, essv5544636, essv5773247, essv6102466, essv6077604, essv5481705, essv6118242, essv5525450, essv6012036, essv6439864, essv5577071, essv5694507, essv6460938, essv5553781, essv6402014, essv5699098, essv5715759, essv5398985, essv5762984, essv6069055, essv5595434, essv6478287, essv6029601, essv5781921, essv6267523, essv6281597, essv6243461, essv5700679, essv5932343, essv5877689, essv6236359, essv6109289, essv6370168, essv6220904, essv6504967, essv6106309, essv5460059, essv6588255, essv6171977, essv6290497, essv6488952, essv6379421, essv5735264, essv6174731, essv6125602, essv6594518, essv5661499, essv5851238, essv5767126, essv6585623, essv6596278, essv6237039, essv5866636, essv6549036, essv5689732, essv5943563, essv5809194, essv6528253, essv5650851, essv6532643, essv5870865, essv6027034, essv6572026, essv5439403, essv6470600, essv6197433, essv6364701, essv6107545, essv5472294, essv6360039, essv5493531, essv6253082, essv5556675, essv5484237, essv5790601, essv5780060, essv5534603, essv5930901, essv6440855, essv5871803, essv5667065, essv5399441, essv6318401, essv6451567, essv6377683, essv5551289, essv5429572, essv5566895, essv6123137, essv5737735, essv5554213, essv6416609, essv5916131, essv6264272, essv5746172, essv5719653, essv5585340, essv5673318, essv6521058, essv6028614, essv6216044, essv6197148, essv5702465, essv5585402, essv5859980, essv5935465, essv5736530, essv5429719, essv5964753, essv5630827, essv6263036, essv6031999, essv5487057, essv5523461, essv5967124, essv6454293, essv5458979, essv6573112, essv5676407, essv5913854, essv6545006, essv5871975, essv5753150, essv6196812, essv6322197, essv6272451, essv5695856, essv5779925, essv5842956, essv5808710, essv6195034, essv6547572, essv5573146, essv5482825, essv5917481, essv5719219, essv5460598, essv6444422, essv6150109, essv5440184, essv5884068, essv6509511, essv6155651, essv5991333, essv6458572, essv5804502, essv5503744, essv6179649, essv6283652, essv5694689, essv5441652, essv6160920, essv5424623, essv6077782, essv5455160, essv6009867, essv6040463, essv6555070, essv6215790, essv5896267, essv6341003, essv6345296, essv5541672, essv5542122, essv5860861, essv6121979, essv5556784, essv6365910, essv5952711, essv6198818, essv5828673, essv6490016, essv5525584, essv5805658, essv5875482, essv5792592, essv6242874, essv5735165, essv5506961, essv6349371, essv6257503, essv6445393, essv6322973, essv6355018, essv5744146, essv6210660, essv6457152, essv6277022, essv6444523, essv6361829, essv5887428, essv6229788, essv5624245, essv6163104, essv6189269, essv5826059, essv6334272, essv5710467, essv6170222, essv6175083, essv6001208, essv6412687, essv5769885, essv5739779, essv5420689, essv5951002, essv5793227, essv6138875, essv6232699, essv5477292, essv5661876, essv6366896, essv5997633, essv5994900, essv5722064, essv6352956, essv5459319, essv5403872, essv6443376, essv6370383, essv6367139, essv5967260, essv6216385, essv6524141, essv5853151, essv5808185, essv5776183, essv6435460, essv6430087, essv6378584, essv5961777, essv6556571, essv6507069, essv5752872, essv6119806, essv5593939, essv5882061, essv6184578, essv5463196, essv6277776, essv6345585, essv5419704, essv5981772, essv5421633, essv6418691, essv5474555, essv5680342, essv6523552, essv5804475, essv6220209, essv6375294, essv6366502, essv6257734, essv5452202, essv5836097, essv5856870, essv6113788, essv5614650, essv6261798, essv5837341, essv6584570, essv5690671, essv6211667, essv5682481, essv6452733, essv6367442, essv5742480, essv5791158, essv5778422, essv6362848, essv6581958, essv5559969, essv5870162, essv5916200, essv5582960, essv6079227, essv5653804, essv6056191, essv5449665, essv6566261, essv5505915, essv6117551, essv5646060, essv5526080, essv6258020, essv6459762, essv6085462, essv5943373, essv6229742, essv6425260, essv6081697, essv6300458, essv5963349, essv6473213, essv6548156, essv5444858, essv6569666, essv6309377, essv5414779, essv6068627, essv6520498, essv5411772, essv6567978, essv6156094, essv5731977, essv5622595, essv5778136, essv6127366, essv5840039, essv6488324, essv5600537, essv6054843, essv5504423, essv6238061, essv6335517, essv6002632, essv6598344, essv6139845, essv5655396, essv6157496, essv6590281, essv5403126, essv5576081, essv5955241, essv6462589, essv5601757, essv5766287, essv6551579, essv5776125, essv5635434, essv6385147, essv5582473, essv6452333, essv5428249, essv5929184, essv6062625, essv6037628, essv5469513, essv6160232, essv6317212, essv6559271, essv5762598, essv6368359, essv6291267, essv5530514, essv5811143, essv6399431, essv5603682, essv6354873, essv6405507, essv6398480, essv6300596, essv5596394, essv6232509, essv5434501, essv6483869, essv5761738, essv5617817, essv6119575, essv6515044, essv5782454, essv5984364, essv5751634, essv5616230, essv6241703, essv6091779, essv6469232, essv6475003, essv5790759, essv6583667, essv5532142, essv6281922, essv6536212, essv6112337, essv5510652, essv5444638, essv5855539, essv6371643, essv5960987, essv6211657, essv5886478, essv5907545, essv5877251, essv6138556, essv6358805, essv5997038, essv6079168, essv5884785, essv6567054, essv5981726, essv6262452, essv6276871, essv5426578, essv5576472, essv5716138, essv5931237, essv6088573, essv6428460, essv5692655, essv6325721, essv5653765, essv5725051, essv6475080, essv5907439, essv5786009, essv5673395, essv6106870, essv5468528, essv5804686, essv5984157, essv5927256, essv6441461, essv5970958, essv5888197, essv5459666, essv5924820, essv5788622, essv5748856, essv6237279, essv6007169, essv6140580, essv6251718, essv5642201, essv6458398, essv6589088, essv5784665, essv6023816, essv6392821, essv6360986, essv6012681, essv5428314, essv5517415, essv5523953, essv6054343, essv6326466, essv5715746, essv6316096, essv5628334, essv5828995, essv6014968, essv5536831, essv6152623, essv5916108, essv5430963, essv5428137, essv5628202, essv6328066, essv5776021, essv5800095, essv6143362, essv6237791, essv6583146, essv5627894, essv5591787, essv6192903, essv6178842, essv6133515, essv6324993, essv5816350, essv5421331, essv6427584, essv5441280, essv5654000, essv6206727, essv6223104, essv6191287, essv6064876, essv5884071, essv5753220, essv6437419, essv6489293, essv6579095, essv6186104, essv6145417, essv5410976, essv6434968, essv6054172, essv6586966, essv5847461, essv5619394, essv6009440, essv5605202, essv6486896, essv5429383, essv6356790, essv6393614, essv6218100, essv6397768, essv5570755, essv5809653, essv6552124, essv5987908, essv6343603, essv5426534, essv5714177, essv6307707, essv5555379, essv5999936, essv6491042, essv6299130, essv6445925, essv5716588, essv6458356, essv6188952, essv5404214, essv6278280, essv6575368, essv5790459, essv5605580, essv6454660, essv6146194, essv5964011, essv6105514, essv6282879, essv5754833, essv5640876, essv5654232, essv6017701, essv5447067, essv6154274, essv6548180, essv5456977, essv5960511, essv6033317, essv5852373, essv6425160, essv5697400, essv5899181, essv6006028, essv6394183, essv5700173, essv6597772, essv6592495, essv5663968, essv5557170, essv5969485, essv6211937, essv6422941, essv6298565, essv6224261, essv6102741, essv6107038, essv6216474, essv5426881, essv6408418, essv6534210, essv5613789, essv6061865, essv5964840, essv6447420, essv5455864, essv6135973, essv5507919, essv5584263, essv6090710, essv5724781, essv5867949, essv6073132, essv5563001, essv5980587, essv6473995, essv5483196, essv6209522, essv5627817, essv5896796, essv6517915, essv6554214, essv6510997, essv5890136, essv6201151, essv5718647, essv5879414, essv6044301, essv5843693, essv6360184, essv6459591, essv5674651, essv6064492, essv5653444, essv6258352, essv6029919, essv6324839, essv5577169, essv6239294, essv5837210, essv5527373, essv6525462, essv5559851, essv5723240, essv5912805, essv6567435, essv5806150, essv6495367, essv5748338, essv5974622, essv5534287, essv6015853, essv6224364, essv5411620, essv6552699, essv6079535, essv5535921, essv6454867, essv6087481, essv6534375, essv5592497, essv6561312, essv6394052, essv6195194, essv5928190, essv5463754, essv6181333, essv5631324, essv6357617, essv6323772, essv5725367, essv6510483, essv5656839, essv5998552, essv6408472
SamplesHG01357, HG01441, HG00380, NA18870, NA12154, HG01440, HG00257, NA18951, NA18530, NA18535, NA12286, HG00551, HG00328, NA20752, HG00705, HG00437, HG00500, HG00112, HG00274, HG00186, HG00464, NA12347, NA20796, HG00565, NA11918, HG01079, HG00463, HG00189, HG00577, NA19788, NA20800, HG01082, NA18953, HG00428, NA18947, HG00139, HG00739, NA18546, HG01167, NA12058, HG00683, NA20805, HG00334, HG00581, NA19685, HG00187, HG00404, HG01101, NA18505, NA20803, HG00156, HG00353, HG00554, HG00158, HG01148, NA20505, NA11919, NA12763, HG01384, NA18627, HG01375, HG00421, NA12004, NA18635, NA19675, HG00259, NA19443, HG01048, NA20530, NA18990, NA18636, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, NA18956, NA19429, HG00338, HG00533, NA18609, NA11843, NA11831, NA11894, NA12400, NA18637, NA20520, HG00174, HG00634, NA18593, HG00243, HG00276, HG00284, HG01187, NA12777, NA19700, NA12144, NA19082, HG00662, NA12751, NA19000, NA19055, NA20769, HG00373, NA19725, HG00267, HG01111, HG01437, NA19786, NA19080, HG01097, NA07346, NA12716, HG01465, NA19129, NA19771, HG00233, NA18633, HG00653, HG01191, NA19374, NA20760, HG00732, NA12778, HG00325, NA12348, NA19716, NA20790, NA20795, NA18968, NA18986, HG00263, NA20753, NA12275, NA19005, NA18510, HG00176, NA19002, NA19664, HG00265, HG00501, HG01069, HG00249, NA11892, NA18961, HG00277, HG00103, HG01080, HG01351, NA20815, HG00740, HG00524, NA20542, NA19720, HG00534, NA20766, HG00525, NA12283, HG01383, HG00377, NA20813, NA19789, HG00236, NA19777, HG01094, NA12891, NA18619, NA12890, HG00427, HG01137, NA19921, NA19729, NA12272, NA20756, HG01095, NA19723, NA18538, NA12413, NA19009, NA20518, NA18631, NA20289, HG00118, NA18544, NA19755, HG00608, HG00654, NA12878, NA18614, HG00530, NA18548, NA11830, NA20810, HG00123, HG00285, NA19225, NA12546, HG00142, HG01366, NA19732, NA20543, HG00708, HG01108, NA18610, NA12045, NA11932, NA11829, NA19130, NA19756, HG01177, HG00119, HG00320, HG01498, HG00625, HG00690, HG00641, HG00183, HG00473, NA18981, NA18908, NA20804, NA20806, HG00626, HG01377, NA18615, HG00671, NA19087, HG00704, NA18555, HG00271, NA19661, NA19779, HG00126, NA19746, HG00531, HG01354, NA18553, HG00312, HG00327, HG00323, NA20281, NA12827, NA18964, NA12718, HG00313, NA19445, HG00152, HG00734, HG01359, NA12249, HG00318, HG00536, NA12750, NA20514, NA12748, NA11930, NA07037, NA20522, NA20278, NA20809, HG01250, NA20503, HG00344, HG01072, NA20785, HG00100, HG01075, NA18561, NA20506, HG00127, HG01055, NA18952, NA18975, NA07056, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, HG00736, NA20508, NA19060, HG00310, NA19003, NA19072, HG00261, HG00707, NA19455, HG01098, NA06989, NA18948, NA12813, HG00117, HG01492, NA18972, NA20816, NA20529, HG00375, NA20342, HG00326, HG01491, NA20778, NA20786, NA19782, HG00270, HG00190, HG01182, HG00122, HG00106, HG00701, NA20588, HG01204, NA12776, NA19678, HG00366, HG00578, NA11893, HG00331, HG00146, NA18965, NA18488, NA19780, NA12341, HG01551, HG00188, NA18626, NA19776, HG00479, NA19654, NA20586, HG00247, HG01133, HG00256, NA18632, NA20770, HG00342, HG00244, HG00266, HG00635, NA20532, HG00543, HG01254, NA18559, HG00321, HG00339, NA19726, NA20761, NA19067, NA19428, NA19982, NA12843, NA20533, NA18624, HG00179, HG00250, HG01140, NA19059, NA12282, NA20515, NA19652, NA12383, HG00337, NA11994, NA19057, NA19068, NA19660, HG00140, HG00638, NA12155, NA18576, HG00180, NA07357, NA19900, NA20504, NA20757, NA19722, HG00610, HG00231, NA20783, HG01495, NA20801, HG01047, HG00689, NA20754, NA18856, HG00628, HG00330, NA07048, NA18638, NA19398, NA19066, NA11933, NA20541, HG00150, NA19774, NA20765, HG00178, HG00419, NA18547, HG00258, NA12829, HG01113, HG01136, HG00264, HG00637, NA18982, NA19681, HG00254, NA19056, NA19663, NA19679, HG00403, NA12830, HG00357, NA20589, HG00237, HG00133, NA18539, HG00114, HG01497, NA12006, NA19676, HG00620, HG00124, NA12046, HG00108, NA18537, NA18620, NA19759, NA12892, NA18572, NA19703, NA20536, HG00268, HG01066, NA20512, HG00629, NA20826, HG00559, NA06986, HG01455, NA20344, HG00260, NA19657, HG00560, NA19713, NA19731, HG01073, NA18558, HG00239, NA18941, HG00273, HG00282, HG00232, HG01176, HG01356, NA19704, NA20814, HG00478, NA18564, NA18942, HG00116, NA20774, NA20828, HG00513, NA20582, HG00512, HG01070, HG00246, NA18562, HG01060, NA18579, NA18974, NA18985, NA18945, NA18606, NA18543, HG00151, NA11832, NA10851, NA18999, NA20581, NA20537, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, HG00181, NA19078, HG01334, NA12749, NA20799, HG00650, NA06984, NA18867, NA18565, HG00138, NA12156, HG00262, HG00580, HG01112, NA19719, HG00311, HG00448, NA18602, NA20509, NA20507, NA20513, NA18533, NA11992, NA19064, NA19770, NA19749, HG00281, NA11993, NA12399, NA20812, NA12842, NA19655, HG00422, NA19070, HG00367, NA18984, HG00693, NA18611, HG01125, HG00324, NA20528, NA18532, NA18574, HG00442, HG01374, HG00137, HG01102, HG01489, NA20524, HG00684, HG00143, NA19758, HG00336, HG00476, NA20502, NA20517, HG00345, NA20538, NA19750, HG00278, HG00136, NA07000, NA19058, NA18980, HG01067, HG00361, HG01198, NA19012, NA11881, NA18621, HG00309, HG00157, NA12489, HG00537, HG00252, NA18605, NA07347, NA20787, NA18595, NA20771, HG00182, NA20527, HG00619, NA18534, HG01353, NA18630, HG00418, NA19819, NA12342, HG01173, NA11920, HG00171, HG01083, NA20510, NA18526, NA20535, HG00155, NA20531, HG00160, NA10847, NA20759, HG01197, HG00657, NA12828, HG00475, HG01174, HG00368, HG00148, HG01350, NA20539, HG00698, NA07051, NA19651, HG00280, HG01134, HG01168, NA20798, HG00319, HG00253, HG00699, NA20755, NA12287, NA20521, NA18943, NA19761, NA18628, NA18949, HG00269, HG00592, NA12414, NA19077, NA19062, HG01550, HG00242, HG00346, HG00593, HG00308, HG01378, NA19917, NA20811, NA18536, NA18622, HG00096, HG01061, NA18617, HG00692, HG01183, HG00149, HG00125, HG01360, NA19075, NA11995
Known GenesAKT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674959
Frequency
Sample Size1151
Observed Gain0
Observed Loss643
Observed Complex0
Frequencyn/a


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