A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677382



Internal ID9596801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114313446..114313758hg38UCSC Ensembl
chr7:113953501..113953813hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6206757, essv6262956, essv5986095, essv5968599, essv6456581, essv5921652, essv6274102, essv5972649, essv5497069, essv6286847, essv5401156, essv6440776, essv5595783, essv6001708, essv6298947, essv5510815, essv6478315, essv5606616, essv6229409, essv6366525, essv6484529, essv6138347, essv5740734, essv6266957, essv6546734, essv6161850, essv6423917, essv5824355, essv5512578, essv5471988, essv5747052, essv6295588, essv5738717, essv6362495, essv6127518, essv6032587, essv5716635, essv6200497, essv6481426, essv5542673, essv6413465, essv5691270, essv5843239, essv5789026, essv6310290, essv5610074, essv6461577, essv5751642, essv6513777, essv5863879, essv5900656, essv6077068, essv6242254, essv6472844, essv5665985, essv6214368, essv6106604, essv5867681, essv6316416, essv6272323, essv6434760, essv6099013, essv6532320, essv5460904, essv5981041, essv5515119, essv6100356, essv5895212, essv6263877, essv6349062, essv5862865, essv5929163, essv5925908, essv5772651, essv5538788, essv5746459, essv5989551, essv6170281, essv5903567, essv6060912, essv6014519, essv5899853, essv5752502, essv6320534, essv6139387, essv6262188, essv5743930, essv5490328, essv6114326, essv5567984, essv6256439, essv6392924, essv5472180, essv5827703, essv5797689, essv6460035, essv6063885, essv5685623, essv5801869, essv5978920, essv6333603, essv5961536, essv5998231, essv6200344, essv6065139, essv6377972, essv6178197, essv5702062, essv6473840, essv5516872, essv6471211, essv5818141, essv6370215, essv6500961, essv5981866, essv5754826, essv6551335, essv5772967, essv5618294, essv6507430, essv5925281, essv5410332, essv5786211, essv6419874, essv5850319, essv5723169, essv5959432, essv5893327, essv5481658, essv5974751, essv6110587, essv6523920, essv5630515, essv6204307, essv6191429, essv5974644, essv6477157, essv5707653, essv5829077, essv5936557, essv5470821, essv5868063, essv6319872, essv5920201, essv6531128, essv5629842, essv5620715, essv5563805, essv6042240, essv6373404, essv6166627, essv6020390, essv6079948, essv5919916, essv6371052, essv5737526, essv6023277, essv5877827, essv5614013, essv5629153, essv6178957, essv6177243, essv6197459, essv6362022, essv5627959, essv5716715, essv6419278, essv6334483, essv6570924, essv5623862, essv6303302, essv5736801, essv6423724, essv6044003, essv5475882, essv6328951, essv6591150, essv5973510, essv5447340, essv6235513, essv6447520, essv5972432, essv6185382, essv5487206, essv6274593, essv5948958, essv5823785, essv5972363, essv6168410, essv5896409, essv6434903, essv5925783, essv6124582, essv6530041, essv5924790, essv6172241, essv5970719, essv6575516, essv6138383, essv6225582, essv5497849, essv5504510, essv6232372, essv5702531, essv6003573, essv5871021, essv5983139, essv6272748, essv6573966, essv5708785, essv6039016, essv6143196, essv6099656, essv5435584, essv6002578, essv5533912, essv6220029, essv5738831, essv5696295, essv5577882, essv6148448, essv5679129, essv5817932, essv6529151, essv6418791, essv6588073, essv6307206, essv5812061, essv6337051, essv5431920, essv6234797, essv5747383, essv6053535, essv6545420, essv5951332, essv5648101, essv6071426, essv5715684, essv6010931, essv5667951, essv5936172, essv5594742, essv6380106, essv5511524, essv5932008, essv6520154, essv6061078, essv6239502, essv6580995, essv5539616, essv5441741, essv6310444, essv6258081, essv5698049, essv6069905, essv6306879, essv5884426, essv6031151, essv5851666, essv6167439, essv5680297, essv6019638, essv5485438, essv6435070, essv5573860, essv6558263, essv5442463, essv5828591, essv5880216, essv6555958, essv5465765, essv6597743, essv6252521, essv5687566, essv6177916, essv5450019, essv6564982, essv6076025, essv5918973, essv5614822, essv6502980, essv5501105, essv6588447, essv5441365, essv5864695, essv5533590, essv6020059, essv5617081, essv6180725, essv6510056, essv6066785, essv6451299, essv6508106, essv6103754, essv5520139, essv6210940, essv6568476, essv6516016, essv6050161, essv5659863, essv6253507, essv5526204, essv6174310, essv5756934, essv6550135, essv6459664, essv5435106, essv6513934, essv5965414, essv5827315, essv5619270, essv5657622, essv5896940, essv6575861, essv6487412, essv5730459, essv6030266, essv5892701, essv5768164, essv6129905, essv5988960, essv6560299, essv6068881, essv5859568, essv5931057, essv6415016, essv6262459, essv6232507, essv5796704, essv6000436, essv5440394, essv5422868, essv5471366, essv6308155, essv5578454, essv6345560, essv6189461, essv5572151, essv5940517, essv5583178, essv6361630, essv6158932, essv5860166, essv5748127, essv6266573, essv5690896, essv5702921, essv5938216, essv6079767, essv6132005, essv5904883, essv5436848, essv6339239, essv6357789, essv5501159, essv6218577, essv5843343, essv5898021, essv6441120, essv6286391, essv6313969, essv6120603, essv5624395, essv6421144, essv6373674, essv5851128, essv5912365, essv5923406, essv5759603, essv5673066, essv5492676, essv5920783, essv5869899, essv5556249, essv5769589, essv6305895, essv6158993, essv5955198, essv6006010, essv6457385, essv6574496, essv6430665, essv5819239, essv5402615, essv6362399, essv6550690, essv5679984, essv6314963, essv6210267, essv5620183, essv6000809, essv5398707, essv6350389, essv6372203, essv5435386, essv6313098, essv5447401, essv5501069, essv5446866, essv5665686, essv5410749, essv6301758, essv6334077, essv6136216, essv5947768, essv5795469, essv6183832, essv5600695, essv5518444, essv5870779, essv6503384, essv6016317, essv6538243, essv5989784, essv6208996, essv5686733, essv6049272, essv6521127, essv6175560, essv6020953, essv5450802, essv5638989, essv5737425, essv5654826, essv5784888, essv6051840, essv6094049, essv6284774, essv6432629, essv5654031, essv6511485, essv5612234, essv5605182, essv5495437, essv5983544, essv5716332, essv5608484, essv6313128, essv5712124, essv5792540, essv5953434, essv6441929, essv5789660, essv6443483, essv6342934, essv6548791, essv5860669, essv6468197, essv5657818, essv5929650, essv5517170, essv5885648, essv6292861, essv5473668, essv6421967, essv6321948, essv5664890, essv6173526, essv5620190, essv5625908, essv5495090, essv6534476, essv5952510, essv6580852, essv6307318, essv5765474, essv6420516, essv6094153, essv6138726, essv5843120, essv5719671, essv6575599, essv5400644, essv6446693, essv6446733, essv5554733, essv6578919, essv6386736, essv5748820, essv6145521, essv6278452, essv5816102, essv5445677, essv6554790, essv6564785, essv6383761, essv6158616, essv6311960, essv6230338, essv5958684, essv5476180, essv6062783, essv6199623, essv6270466, essv5581731, essv5954273, essv6283436, essv5633823, essv5936676, essv5673640, essv6145976, essv5764665, essv5797134, essv6419181, essv5835183, essv5939904, essv5916583, essv6499436, essv5919492, essv5712780, essv5770254, essv5754712, essv5847784, essv6034753, essv6021095, essv6556459, essv5588834, essv5553887, essv5932120, essv5547876, essv6083985, essv5572886, essv5797890, essv6211096, essv5416022, essv6388521, essv6031230, essv5832589, essv5906811, essv5832620, essv6242746, essv5917642, essv6245110, essv5883354, essv5650020, essv6558638, essv6076620, essv5688383, essv5773110, essv5718936, essv5502303, essv6170196, essv5884810, essv5548465, essv6189578, essv5911008, essv6553023, essv5811122, essv6580884, essv6358695, essv6366840, essv5524664, essv6294264, essv6373576, essv6431596, essv6068053, essv6262529, essv5885558, essv5608147, essv5844233, essv5940499, essv5749184, essv5564901, essv6453801, essv6549262, essv6208195, essv5606233, essv5833049, essv6354538, essv5526974, essv5485664, essv6538408, essv5779808, essv5461885, essv6425853, essv6254582, essv5964583, essv5699050, essv5991947, essv6503593, essv6089352, essv6397879, essv5550635, essv6130334, essv6327424, essv5671617, essv6152688, essv6503623, essv5903802, essv5494950, essv5750150, essv5536972, essv6190100, essv6221829, essv6035419, essv6522767, essv5566689, essv6302819, essv6230146, essv5722380, essv5674880, essv5503970, essv6046024, essv6306751, essv6336378, essv5460180, essv5529196, essv6077139, essv5570777, essv6176797, essv5494725, essv5490278, essv5816282, essv5542142, essv6269203, essv6158251, essv6340310, essv6400102
SamplesNA20588, NA18502, HG00650, HG00442, HG00608, NA18621, NA18947, NA19399, NA12414, NA12843, NA11920, NA11931, NA18999, NA12751, NA18504, NA19377, NA18530, HG01461, NA19920, NA18633, NA19067, NA12813, NA19446, HG00138, NA19171, NA19379, HG00589, NA19315, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA18574, NA11918, NA18582, HG01083, HG01365, NA20291, NA19079, NA18949, HG00512, HG00281, NA20759, HG01519, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, NA19985, NA18867, NA19789, NA19921, NA12777, NA18951, NA18605, NA20535, NA12489, NA18538, NA19070, NA19056, NA12878, HG00657, HG00344, NA19081, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18907, NA18537, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, NA11893, NA18532, NA06989, NA19059, NA19009, NA19452, NA18523, HG00463, NA12778, NA19395, NA19625, NA18593, HG01107, HG00611, NA19440, NA19256, NA18517, NA19712, NA19434, NA18564, HG00580, NA19444, NA19331, NA19010, NA19470, NA19428, NA19083, NA18943, NA20281, NA19360, HG00662, NA18615, NA12347, NA19328, HG00614, NA18631, NA19223, NA18609, NA19102, HG00112, HG00274, HG00595, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, NA18487, NA19431, NA18577, NA11832, HG00593, NA19700, NA19055, NA19397, NA18924, NA11995, NA18592, NA18980, HG01079, NA18561, NA19704, NA18507, NA11933, NA18599, HG01389, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA20346, HG00150, NA20507, NA19190, NA19098, NA18526, NA12400, NA12413, NA12341, NA19068, HG01250, NA19076, NA18550, NA18489, NA18595, HG00702, HG00689, NA18635, NA19916, HG00330, HG00634, NA19131, NA18942, HG00736, HG00610, NA19197, HG01354, NA19313, NA12287, NA19054, NA18498, NA20336, NA20541, NA12282, HG00277, NA12005, NA19651, NA20340, NA19371, NA18617, NA19471, NA19087, NA12889, NA19159, HG00182, NA19002, NA19725, NA19189, NA18520, NA19209, NA12828, NA18908, NA18973, HG00530, HG00419, NA19451, NA18638, HG00464, NA19007, HG00543, HG01136, NA19247, NA18613, HG00629, NA19707, NA12342, NA19077, HG00428, NA19462, NA19347, NA19391, NA19327, HG00475, NA19982, HG00584, HG00500, NA18910, NA18976, NA20344, NA19655, HG00373, NA18499, NA12892, NA18853, NA20282, NA19225, NA19160, NA18536, NA18576, NA20296, NA19401, HG00476, NA18535, NA11881, NA19834, NA19108, NA18952, NA18543, NA18559, NA12775, HG00136, NA07051, HG00319, HG01108, NA20803, HG00256, NA19818, NA19376, HG00707, HG00578, NA19248, NA19438, NA19472, HG00329, NA12749, NA19713, NA12830, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, HG00472, NA07056, NA18505, NA19004, NA20322, HG00345, HG01097, NA18549, HG00437, NA19153, NA20509, NA19394, NA12383, NA19701, NA20761, HG00542, NA12717, NA12842, NA19703, HG01462, NA19909, NA12286, HG00671, NA19066, NA19204, NA18861, NA18508, NA10851, HG00559, NA12273, NA18565, HG01066, HG00315, NA19350, NA19359, NA20294, NA19355, NA12340, NA20332, NA18959, NA20517, HG00654, NA19443, HG01051, HG00261, NA18510, NA12399, NA18602, NA18988, NA18627, HG00271, NA19107, HG00663, NA07346, NA18563, NA18940, NA18519, HG00272, NA19319, NA18597, HG01351, HG01168, NA18567, NA19062, NA07347, NA19457, NA18571, HG00334, NA20287, HG00185, NA19904, NA19130, NA11930, HG01069, HG01080, NA20278, NA12156, HG00156, HG00325, NA11932, NA19372, NA12044, NA11994, HG00534, NA19235, NA19207, HG00705, HG00118, NA18990, NA20342, NA20127, HG00253, NA18539, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19403, HG00557, HG00245, NA18933, HG00732, NA20314, HG00556, HG00583, HG00275, NA18579, NA18871, NA18534, HG00740, NA20525, HG00284, NA18573, NA19461, NA11919, HG00651, NA18626, HG00531, HG00479, HG00684, NA18912, HG01101, NA19099, NA18555, NA18963, HG00704, NA12144, NA19469, NA18570, NA18858, NA12546, NA18541, HG01075, NA18974, NA12043, NA18953, NA19375, NA19003, NA18632, HG00254, NA19390, NA19147, HG00625, NA20276, HG00353, NA20815, NA19072, NA12272, HG01375, NA19835, HG00473, NA19324, NA19311, NA20544, HG00418, NA18610, HG00620, NA18501, NA06994, HG00259, HG00342, NA19474, NA19093, NA18636, NA20289, HG00280, NA11843, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA11892, NA19316, NA19312, HG01125, NA18968, NA12890, NA12006, NA19463, NA18623, NA19063, NA12154, NA20754, NA19346, NA18620, HG00403, NA11830, HG00536, HG00249, NA11829, NA19914, NA19332, NA18917, HG00318, NA18486, NA18545, NA19393, NA18596, NA18606, NA18870, NA12155, NA07357, HG01140, HG00327, NA18967, NA19374, NA19396, NA19381, NA19005, NA18944, HG01366, NA19201, HG00501, NA19448, HG01488, HG00448, NA19119, NA18982, NA19198, NA18619, NA12891, NA12348, NA11992, HG00346, NA12283, NA19088, NA19138, HG00369, NA18964, NA18611, NA19404, HG01067, NA19383, NA18874, NA06984, NA18977, NA19917, NA19137, HG01072, NA19385, HG00422, NA19317, HG00427, NA19901, NA19445, NA18975, NA19200, NA11993, HG00260, NA18614, NA11831, NA10847, HG01183, NA18544, NA19210, NA19437, HG01187, HG00596, HG00328, NA12003, NA19152, HG00653, NA18956, HG00701, NA19236, NA18516, HG00436, HG00533, NA18637, NA20126, NA19658, NA18630, HG00619, HG00708, NA18566, HG01073, HG00273, NA19114, NA20299, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, NA12827, NA19338, NA19257, HG00276, NA18634, NA18945, NA19436, NA18546, NA18608, NA18542, NA12716, NA18909, HG00285, NA18961, NA19473, NA18941, NA20804, NA19240, NA19380, NA19144, NA12046, NA19334, NA19439, NA19467, NA07037, NA19085, NA06986, NA19398, NA20348, NA18971, NA19060, HG00421, HG00656, NA20334, HG00123, HG00698, HG00131, NA19213, NA19661, NA18511, NA07000, NA18522, NA18622, NA18562, NA12776, NA18965
Known GenesFOXP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677382
Frequency
Sample Size1151
Observed Gain0
Observed Loss618
Observed Complex0
Frequencyn/a


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