A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667601



Internal ID9587020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138045057..138046064hg38UCSC Ensembl
chr4:138966211..138967218hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381008
hg191008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6590107, essv6505234, essv5714889, essv6439302, essv6347074, essv5708931, essv6036931, essv6170690, essv5666089, essv5826708, essv5787089, essv6415247, essv5763180, essv6447368, essv6512336, essv6421839, essv5896297, essv5397938, essv6188979, essv6400203, essv5698386, essv6559910, essv5630244, essv6544039, essv5871387, essv5836380, essv6597795, essv6222457, essv6074282, essv6057339, essv5879696, essv5521118, essv5396218, essv5930198, essv6010660, essv6285998, essv5512690, essv5413034, essv5950794, essv6125513, essv6315294, essv6243477, essv5929304, essv6466150, essv6406575, essv5804227, essv5553813, essv5929462, essv5722403, essv6085836, essv5944752, essv5655312, essv6042958, essv6002228, essv5427540, essv5570509, essv6365411, essv6087169, essv5725622, essv5686683, essv6234354, essv6100439, essv6084763, essv6280864, essv6139160, essv5412745, essv5740273, essv6512740, essv6259751, essv6182356, essv5715023, essv5620526, essv6492553, essv6454164, essv5425796, essv6379868, essv5778125, essv6164357, essv6015530, essv5586481, essv6104625, essv5409962, essv6042222, essv6338568, essv5820659, essv5948535, essv6141316, essv5417700, essv6580360, essv5969777, essv5690231, essv5651175, essv6023066, essv5454972, essv5746154, essv6299670, essv6055718, essv5587507, essv5631393, essv5441948, essv6450092, essv5539688, essv6499357, essv5929930, essv6077982, essv5400623, essv6352291, essv6474936, essv5955836, essv5900980, essv6394303, essv6010370, essv6267231, essv6244727, essv5441082, essv5661685, essv5791049, essv6370032, essv5970919, essv5432865, essv5892082, essv5707439, essv5911066, essv5869749, essv6387591, essv6509884, essv5810868, essv5420294, essv5894854, essv5558334, essv5605407, essv5816560, essv5644165, essv6230541, essv5576025, essv5900650, essv5694073, essv5409659, essv5586367, essv5568779, essv5816968, essv6319532, essv6268599, essv5777006, essv6168798, essv5428499, essv5849198, essv6399541, essv6366717, essv6058205, essv6534499, essv5443139, essv5820335, essv6182774, essv5832829, essv6250127, essv5992832, essv5724394, essv6301798, essv6303170, essv6476774, essv5630322, essv5803257, essv5589154, essv5876901, essv5720641, essv5853106, essv6144713, essv5484582, essv6145948, essv5902278, essv5865413, essv5407606, essv6256785, essv6481910, essv5522335, essv5985982, essv6471029, essv5644203, essv6299644, essv5799408, essv5637875, essv6255911, essv6119878, essv5783829, essv6403153, essv6058311, essv5693878, essv5462573, essv5566950, essv6497822, essv5519891, essv5995383, essv6581722, essv5872473, essv5471513, essv5657151, essv5552769, essv6584000, essv5972558, essv5614647, essv5451360, essv5768971, essv6129321, essv6293010, essv6253001, essv5490069, essv5445802, essv5677087, essv5612475, essv6422101, essv5797182, essv5449644, essv6357843, essv6033971, essv6203174, essv6516919, essv6561323, essv6176832, essv6004435, essv5981916, essv5924668, essv6528054, essv6513630, essv5869202, essv6359430, essv6323209, essv5998280, essv5870219, essv6215750, essv6460516, essv6379138, essv5669387, essv5455478, essv5485516, essv5788689, essv5399261, essv6422058, essv6026124, essv6150747, essv6306832, essv5954932, essv5619759, essv6581129, essv6212803, essv5713322, essv5994345, essv6347504, essv5585676, essv6324613, essv5609637, essv5901740, essv5813235, essv6416906, essv6343163, essv5680882, essv5693602, essv6507510, essv5738011, essv5937785, essv6437076, essv5451455, essv5745551, essv6132562, essv6070561, essv6078732, essv5821783, essv5602311, essv5704051, essv6069797, essv5888130, essv6087085, essv6012963, essv6258911, essv5486112, essv5848028, essv5533272, essv5546299, essv5889253, essv6371574, essv5555998, essv6318658, essv6513373, essv5960551, essv5742649, essv5700624, essv6592994, essv6405281, essv6405451, essv6500044, essv6224673, essv6568544, essv6437825, essv6284820, essv6509013, essv5748236, essv5525284, essv5884418, essv5925910, essv5789119, essv6488785, essv6051730, essv5621367, essv6231321, essv5783111, essv5448701, essv6543108, essv5590717, essv6463439, essv6110433, essv6584974, essv5896402, essv6502524, essv6492201, essv5947624, essv5449183, essv5427779, essv6231186, essv6314364, essv5962354, essv6099647, essv5472319, essv6377147, essv5861125, essv5798429, essv5445326, essv5688065, essv5532995, essv5865509, essv5764937, essv5662130, essv6424687, essv5606374, essv6192538, essv6158433, essv5876113, essv5806354, essv6051623, essv5534974, essv5795970, essv5929630, essv5953325, essv5669034, essv6131729, essv5639022, essv5765202, essv6438216, essv6597285, essv6463353, essv6079716, essv5860924, essv5671749, essv5513961, essv6340689, essv6112812, essv6091946, essv5624560, essv5959403, essv6524948, essv5895832, essv6472830, essv5764496, essv5500490, essv5697856, essv6313632, essv5954198, essv5573192, essv6492583, essv6073911, essv5892836, essv6509308, essv5956762, essv6325703, essv6495353, essv6214946, essv5486093, essv6346961, essv5642703, essv5688406, essv6436222, essv6576787, essv5778093, essv5478712, essv6106408, essv5887342, essv6183006, essv6095134, essv5831167, essv5928250, essv5802106, essv6391523, essv6185257, essv5684065, essv5435002, essv5893949, essv6378479, essv6362061, essv6193326, essv5628741, essv5677046, essv6186335, essv5765617, essv5573874, essv5950609, essv5523322, essv5848682, essv5707430, essv5406376, essv6203547, essv5719268, essv6196782, essv5998664, essv6536399, essv6565546, essv6228035, essv5406297, essv6456271, essv6288811, essv5905642, essv5582782, essv6520924, essv6310187, essv5596856, essv6105084, essv6276863, essv5533782, essv5460170, essv6420228, essv5962269, essv5476258, essv6264604, essv5755279, essv6063285, essv5753375, essv6292258, essv5681902, essv6120957, essv5421121, essv6590158, essv5435745, essv5403260, essv6116153, essv5576124, essv5397163, essv6421955, essv6133734, essv5912870, essv6149013, essv6073910, essv6483823, essv5406912
SamplesHG01112, HG00180, NA18562, NA20509, NA20588, NA19394, NA12383, HG00189, NA20761, HG00542, NA12717, HG00442, HG01173, NA20529, NA12842, HG00143, HG01462, HG00142, NA12286, NA20508, NA19664, NA10851, HG00559, NA12273, NA20783, NA18565, NA12414, NA12843, NA11920, NA11931, HG01066, HG00315, NA18999, HG00233, NA20802, NA20512, HG00244, NA19359, NA18959, HG00737, HG01518, NA20517, HG01051, HG00261, NA12399, NA18602, HG00271, NA19107, NA20814, HG00641, NA19171, HG01350, NA19379, HG00589, HG00272, HG00122, NA19315, NA18597, NA20798, HG01177, NA19678, NA20774, HG01168, NA20756, NA18567, NA18558, NA18547, HG01492, NA18960, NA18618, NA07048, NA11918, NA07347, NA18582, NA18571, HG01083, HG00185, HG00311, NA18949, HG00158, NA11930, HG00281, HG00139, NA20539, NA12275, HG01080, NA20518, NA11932, HG00232, NA19372, NA19238, NA12044, NA11994, HG00534, HG00705, NA19722, HG00160, HG00118, NA18990, NA19239, NA18557, NA20127, HG00323, HG01550, HG00253, NA20515, NA19789, NA20755, NA20753, HG01124, NA12777, NA18951, NA18605, NA20535, NA12489, HG00268, HG00266, HG01171, HG00282, NA19670, NA20521, HG00368, NA19717, NA19455, NA19663, NA19081, HG01498, HG00275, NA20519, NA18871, HG00551, HG01102, HG00324, NA18573, NA11919, HG00250, NA18626, HG00690, HG00531, NA12829, NA11893, HG00331, NA19750, NA19453, NA18532, NA06989, HG01101, NA18553, NA19009, HG00152, HG00146, NA12144, NA18523, HG00246, NA18570, NA19625, HG01107, NA18541, HG01075, NA18974, NA12043, NA19003, HG00258, NA20799, NA18632, NA19390, HG00265, NA19256, HG00625, NA19434, NA18564, NA19747, HG00353, NA20815, HG00580, HG01551, NA19444, HG01357, NA20790, NA20527, HG01375, NA19835, NA20792, HG00237, NA19679, NA19470, NA19428, NA19324, NA19311, HG01137, NA19083, NA18943, NA20281, NA19783, HG00662, HG00418, HG01489, HG00620, HG00339, NA18501, HG00259, NA19223, NA19468, HG00267, NA19474, NA19093, NA20510, HG00310, HG00112, NA11843, HG00377, HG00274, NA19430, NA19129, NA11892, NA19316, NA19312, HG00628, HG00171, NA12006, NA12154, NA20754, NA19429, NA19346, NA19074, HG01437, HG00553, NA11832, NA19676, NA18620, HG00096, HG01060, HG00114, HG01441, NA19700, HG00592, HG01098, HG01356, NA20543, NA19055, NA19397, HG00249, NA11995, NA11829, HG00361, NA19914, HG00187, NA19332, HG01079, HG00100, NA18507, HG01188, NA11933, NA18599, HG01374, HG00306, NA12045, HG00367, HG00318, HG00699, HG00103, NA19393, NA19777, NA18596, NA12058, HG00179, NA20808, HG00177, HG00150, NA19190, NA18870, NA12155, NA07357, HG01140, NA12341, HG00327, NA20537, NA19396, HG00127, HG01366, HG00251, NA19201, NA19728, NA19448, HG00173, NA19723, NA18982, NA19198, NA20317, NA12891, NA19916, HG00330, NA20769, HG00736, HG00610, NA19649, NA19197, HG00346, NA19313, NA19088, NA12287, NA19054, HG00369, HG00270, NA19681, NA20541, NA18611, NA12761, HG01134, HG00277, HG01455, NA19651, HG01067, NA19383, HG00683, HG01170, NA18977, HG01495, HG00262, NA20340, NA19731, NA19317, NA19087, HG01440, HG00309, NA19901, NA19189, NA18520, HG00637, HG00159, NA12828, HG00178, NA19451, NA18638, HG00264, NA12748, HG00108, HG00260, NA20818, NA18614, NA10847, HG01353, HG00313, HG00133, HG01136, HG00188, NA18613, HG00176, NA19082, HG01187, NA20524, HG00328, NA12342, NA19077, HG00428, NA19347, HG00190, NA20809, HG01515, NA19391, NA19327, NA18991, HG00475, HG00320, NA20506, NA18630, HG00619, HG01390, HG01094, HG01073, HG00273, NA20299, HG00373, HG01197, NA20538, NA12249, HG01383, NA12892, HG00117, HG00525, NA18853, NA12827, HG00276, NA20828, NA18536, NA20542, NA20765, NA19685, NA19401, HG00124, NA20773, NA12716, HG00119, HG01190, HG00285, NA19834, NA19321, NA18559, NA12775, NA19749, HG00366, NA19473, HG00375, HG00357, NA18941, HG00638, NA19240, HG00278, NA19773, NA07051, NA12046, HG00319, HG01108, NA20803, NA20797, NA07037, HG00256, NA06986, HG00269, HG00125, NA19759, NA19398, NA19078, HG00672, HG00578, NA19248, NA19438, NA20582, NA19472, NA19060, HG00421, NA20334, HG01055, HG00123, NA12830, HG00186, NA20807, NA19726, HG00343, NA20528, NA18552, HG01251, HG00372, NA19661, NA18984, NA07056, NA18505, HG01378, NA18488, HG00345, NA18511
Known GenesLINC00616
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667601
Frequency
Sample Size1151
Observed Gain0
Observed Loss451
Observed Complex0
Frequencyn/a


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