A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667390



Internal ID9933495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214864037..214866107hg38UCSC Ensembl
chr2:215728761..215730831hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5844035, essv6159596, essv5625094, essv6063444, essv5976875, essv5924650, essv6096776, essv6087837, essv6407304, essv6137943, essv5855215, essv5695641, essv5543278, essv6342053, essv6243801, essv6266038, essv5833480, essv6325322, essv6232429, essv5943555, essv5528140, essv5467137, essv5721228, essv6450807, essv6323443, essv6053968, essv6430844, essv6468290, essv5547135, essv5864016, essv6485492, essv5635413, essv6468171, essv6253938, essv6109199, essv6251171, essv6103371, essv5574319, essv6540893, essv6099150, essv6425734, essv5735407, essv5464067, essv5694380, essv5594149, essv6385076, essv6534371, essv6534306, essv6575839, essv6214820, essv6353825, essv6398827, essv6147232, essv6317075, essv6213576, essv5720848, essv6016007, essv5601377, essv6039098, essv5498421, essv5634138, essv6413141, essv5627975, essv6339234, essv5442211, essv6385299, essv6111205, essv6563510, essv5775186, essv6555176, essv5744417, essv6449546, essv6079782, essv6194103, essv6529713, essv6215937, essv6297740, essv6247803, essv6467296, essv5787661, essv6085454, essv5859053, essv6521324, essv5733611, essv5527865, essv5872747, essv6257273, essv6039402, essv5550149, essv5582662, essv6575578, essv5919320, essv5784050, essv6179985, essv5507578, essv6045823, essv5729997, essv6458336, essv6146731, essv5488803, essv6541213, essv5405672, essv5693092, essv6594725, essv6498925, essv6529798, essv6139746, essv5530510, essv5847286, essv5440460, essv5746003, essv6533712, essv6283878, essv6371211, essv5417650, essv5712616, essv5895916, essv5770303, essv6285461, essv5883207, essv6353670, essv5860500, essv6470704, essv5732618, essv5800220, essv5969264, essv5739114, essv5855100, essv6531554, essv6457542, essv6277692, essv6023011, essv6353838, essv5834145, essv5524688, essv5652553, essv6556883, essv6184113, essv5568850, essv5824978, essv6411424, essv6544376, essv6584592, essv6510907, essv6287138, essv5910773, essv5491174, essv6456570, essv6243982, essv5978382, essv5814670, essv6249114, essv6059829, essv5465013, essv5787668, essv6219612, essv6297005, essv5674689, essv6170667, essv5809561, essv6470485, essv5655412, essv6382129, essv5967681, essv5900576, essv5503743, essv6003302, essv5821189, essv6122483, essv5874487, essv5778764, essv5962048, essv6586834, essv5849318, essv6544903, essv5761088, essv5427855, essv5825352, essv6142735, essv6194863, essv5452516, essv6457192, essv5849014, essv5963469, essv5638656, essv5655486, essv6068632, essv6013173, essv6110446, essv5864295, essv5967117, essv6209239, essv5643745, essv5758991, essv5499957, essv6120570, essv6300373, essv6027223, essv5857542, essv5615404, essv5963909, essv6098481, essv5863036, essv5550492, essv5969747, essv5729268, essv5465206, essv5762750, essv6488190, essv5709076, essv5555872, essv6038497, essv5542522, essv6497054, essv5912362, essv5705344, essv6525579, essv6297594, essv5514543, essv6335776, essv5413353, essv6579295, essv6467349, essv6041207, essv5492020, essv5795789, essv5501077, essv5623861, essv6225812, essv5600659, essv6436387, essv6141290, essv5506576, essv6471324, essv6585460, essv6103763, essv6381431, essv6404451, essv6361368, essv6283480, essv6073106, essv5738042, essv6317224, essv6008499, essv5515264, essv6133088, essv6403066, essv6259958, essv5591278, essv6350542, essv6320411, essv6347530, essv5768750, essv6478389, essv6204069, essv6096001, essv6517385, essv6329949, essv5687169, essv5485535, essv5414596, essv5850538, essv6133652, essv6491351, essv6474096, essv6468655, essv6102835, essv6126133, essv5686539, essv5442124, essv6166051, essv6546250, essv5592693, essv6013833, essv5491309, essv6141373, essv6571796, essv6545614, essv6052979, essv5776269, essv5585280, essv5844165, essv6182967, essv5718329, essv5643219, essv6337260, essv5671023, essv6483075, essv5775067, essv5554458, essv5741327, essv5476426, essv5475489, essv6276499, essv5432553, essv5770066, essv6531713, essv6435659, essv6103182, essv6041270, essv5508981, essv5920812, essv5951085, essv6543643, essv6361122, essv6209018, essv6049927, essv5785550, essv6549629, essv6589686, essv5487682, essv5651265, essv5405621, essv5694819, essv6587211, essv5592616, essv6240669, essv6201102, essv5674424, essv6260031, essv6250340, essv6234972, essv5548019, essv5772879, essv6116976, essv5639345, essv6393047, essv6417661, essv6307367, essv5423631, essv5501563, essv6283505, essv6331688, essv5740200, essv5593695, essv5396867, essv6119132, essv5965598, essv6495462, essv6591660, essv6474280, essv5721365, essv5630967, essv5476703, essv5806221, essv5589534, essv6071496, essv6567178, essv6220999, essv5424123, essv6266059, essv5624180, essv6042173, essv5755557, essv6290543, essv5789380, essv5965264, essv5930419, essv5644861, essv5800864, essv5426882, essv5457879, essv5986155, essv6135878, essv5519344, essv5709365, essv6174489, essv6354430, essv5710789, essv5610103, essv6265841, essv6535692, essv5657526, essv5639165, essv5415060, essv6568071, essv5747285, essv5984716, essv6251295, essv6494049, essv5819493, essv5608462, essv5829395, essv6463981, essv6499248, essv6344927, essv5852139, essv5782586, essv6318608, essv6111919, essv5534037, essv6326507, essv5725670, essv6576937, essv5830664, essv5605575, essv6433754, essv6568409, essv6471483, essv5958009, essv5886781, essv5575741, essv6100962, essv5744350, essv6522161, essv6462218, essv5502096, essv6536504, essv6200264, essv5723752, essv5556075, essv6330180, essv6416165, essv5721322, essv6285047, essv5592248, essv6525345, essv6363991, essv6445249, essv6156513, essv5630972, essv5585414, essv5510945, essv5730265, essv6449718, essv6363293, essv5474404, essv5573503, essv6268128, essv6182242, essv6208009, essv6052922, essv6225529, essv5991458, essv5837016, essv6579094, essv6376589, essv5828075, essv5401141, essv5536601, essv6225211, essv6441145, essv6314647, essv6162402, essv5695178, essv6264387, essv5627985, essv5709573, essv5522134, essv6031040, essv5807526, essv5521731, essv6098383, essv6386386, essv5735320, essv6293994, essv6084824, essv6566894, essv6573945, essv5850652, essv5799523, essv6247270, essv5813619, essv6127792, essv5768835, essv5856552, essv5522305, essv6579358, essv6418364, essv5588706, essv6517213, essv6498042, essv6079602, essv5483786, essv6398064, essv6402997, essv5945251, essv5731314, essv5634392, essv5871843, essv5946994, essv6111452, essv5643252, essv6136845, essv5863773, essv6013627, essv5438113, essv6198450, essv6305147, essv6249650, essv5571990, essv6495110, essv5679862, essv5582129, essv5905201, essv6426694, essv5850884, essv6168225, essv5613490, essv5785806, essv5548320, essv6563778, essv5893497, essv6280914, essv5985910, essv5613144, essv5941926, essv5505658, essv5548994, essv6593071, essv6181285, essv6040293, essv6245342, essv5484101, essv6418686, essv6180514, essv6199677, essv6241823, essv6443080, essv6112159, essv5464920, essv5477615, essv5956579, essv5888360, essv6431222, essv5839152, essv6162524, essv6508764, essv5678345
SamplesNA20588, HG00189, HG00650, NA20529, HG00608, NA18621, NA18947, NA19664, NA11920, NA11931, HG00257, NA18999, NA12751, NA19684, NA18530, NA12750, NA20806, NA19067, HG01350, NA19379, HG00122, NA20589, HG01167, NA20795, NA18558, NA18547, HG01492, NA18960, NA18618, NA07048, NA11918, NA12762, HG01083, HG01365, NA19384, HG00537, NA19079, NA18949, HG00158, HG00281, HG00139, NA20759, NA19720, NA20775, NA19172, NA18985, HG00326, HG00323, HG01550, NA19789, NA20755, NA19921, HG00137, NA18951, NA20535, NA12760, NA12489, NA20800, NA19070, NA19056, NA12878, NA20521, NA20810, NA20760, NA19717, NA19663, HG01498, NA12718, NA20519, NA18572, NA18537, HG01102, NA19084, HG00404, NA19750, NA18532, NA06989, NA19059, HG01334, NA19009, NA19682, NA18523, HG00463, NA12778, NA18593, NA19729, HG00611, HG00336, NA19256, NA18564, NA18628, HG00580, NA20520, HG01174, NA12763, NA18615, HG01342, NA12347, HG00614, HG00513, HG00478, NA19785, NA18631, NA19779, HG00267, NA18873, HG00112, NA19770, NA20826, HG00377, HG00274, NA20503, NA18989, NA19065, NA19429, NA19074, NA18487, HG01437, NA20772, HG00593, HG00626, HG00096, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, HG01359, HG01052, HG01079, HG00100, NA19704, HG01188, NA18599, HG01374, HG00306, NA18603, NA12045, HG00699, NA12004, NA12058, NA20808, HG00150, NA20507, NA18526, NA12341, NA20537, HG01250, NA19746, NA18489, NA19728, HG00689, HG00173, NA19723, NA18635, NA19916, HG00330, NA20769, HG00736, HG01354, NA20540, NA19313, NA20513, HG01110, HG00590, NA20541, HG00277, NA12005, HG00120, HG00683, HG01170, HG00262, NA19719, NA20340, NA19075, HG01176, HG00182, NA19725, NA19189, HG00637, NA18973, HG00530, HG00419, HG00464, NA19007, HG00543, HG01136, NA18613, HG01360, HG00176, NA19082, NA20524, NA12342, NA19077, HG00428, NA20809, NA20536, NA18991, HG00475, NA19982, HG00584, NA19788, NA19776, NA19000, HG00373, HG01197, NA12892, HG01182, NA20282, NA20828, NA19756, HG00141, NA20542, NA19685, NA19401, NA20801, NA18535, NA11881, NA18952, NA12775, NA19749, HG00375, HG00136, HG00638, NA07051, NA20504, NA19786, HG01108, NA20803, HG00256, HG00125, NA19818, NA19376, HG00707, HG00578, NA19248, HG00312, HG00329, NA18987, NA12749, HG00174, NA20807, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, NA18505, NA19004, NA20322, NA18549, HG01191, NA20509, NA12383, NA19701, NA20761, HG00542, NA12717, HG00143, NA19703, NA19909, NA12286, NA19066, HG00242, HG00559, NA20783, NA20514, HG01066, HG00315, NA20802, NA19359, NA20294, NA19355, NA12340, HG00737, NA18616, HG00654, HG01051, NA20356, HG00261, NA20771, NA12399, HG01522, NA18988, NA18627, HG00271, HG00663, NA20814, NA07346, HG00641, NA18940, HG00272, HG01351, NA20774, NA18567, NA07347, NA18571, HG00334, NA20287, HG00185, NA19904, NA11930, NA20539, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00156, HG00325, NA11932, NA19372, NA12044, NA11994, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, NA18557, HG01048, HG00253, NA20753, HG01124, HG00154, NA19908, HG00268, HG01171, HG00282, NA19670, HG00245, NA18933, HG00732, HG00368, HG00556, HG00583, NA18534, HG00239, HG00740, NA20525, NA19654, HG00324, HG00284, NA18573, NA19461, NA11919, HG00651, HG00250, HG00479, NA20581, HG00684, NA18912, HG00140, NA18553, NA18555, HG00152, HG00146, HG00704, NA18570, NA12546, HG01075, NA19012, NA12043, NA18953, NA19375, HG00258, HG00265, HG00625, NA19747, HG00353, NA20815, NA19072, HG01551, HG00734, HG01357, NA20527, HG01375, NA19835, HG00473, HG00237, NA19679, HG01113, HG01137, NA19783, HG00418, NA18610, HG01489, HG00339, NA06994, HG00342, NA19474, NA19093, NA20510, HG00310, HG00280, NA20758, NA19900, NA18983, NA20502, NA19430, HG00171, NA18968, NA12890, NA12006, NA18623, NA20585, NA19063, NA12154, NA20754, HG00403, NA11830, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, NA20531, HG00640, HG00318, NA18545, NA20805, NA19777, NA18596, HG01456, NA18606, HG00179, NA12155, NA07357, NA19374, NA20796, NA18944, HG01070, HG01488, NA18982, NA19198, NA18619, NA12891, NA12348, HG00346, NA12283, NA19771, NA19088, HG00369, HG00270, NA19782, NA18964, NA18611, HG01455, HG01067, NA19383, NA06984, HG01495, HG01072, NA19731, NA19385, HG00422, HG00309, HG00159, HG00264, NA11993, NA18614, NA10847, HG00133, HG01183, HG01187, HG00596, HG00145, HG00328, NA12003, HG00653, HG00577, NA19236, HG00436, HG00320, HG00533, NA18637, NA19658, NA18630, HG00619, HG01390, HG00273, NA19774, NA20538, NA12249, HG00613, HG00525, NA12827, HG00276, NA20534, NA18945, HG01204, NA20765, NA18608, NA20522, NA18542, HG01190, HG00285, NA18961, NA19435, NA18941, HG00278, HG01494, NA19439, NA20516, NA20797, NA07037, HG00269, NA19398, HG00111, NA18971, NA19060, HG00421, HG00123, HG00186, HG00698, NA20528, HG01251, NA19661, HG01378, NA19755, NA18488, NA19758, HG00554
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667390
Frequency
Sample Size1151
Observed Gain0
Observed Loss529
Observed Complex0
Frequencyn/a


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