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 Variantsessv5738717, essv5920783, essv5715684, essv5743930, essv6362399, essv5550635, essv5497849, essv6266957, essv6232372, essv6345560, essv5754712, essv6306751, essv5614822, essv6546734, essv5686733, essv5833049, essv5617081, essv5860669, essv5539616, essv5885558, essv6262188, essv5533590, essv6377972, essv6529151, essv6443483, essv5929163, essv6431596, essv5578454, essv5911008, essv5981041, essv5625908, essv5964583, essv5835183, essv6138347, essv6099013, essv6000436, essv5736801, essv6333603, essv6071426, essv5940499, essv6274593, essv6208195, essv5723169, essv5750150, essv5577882, essv6214368, essv6400102, essv5884810, essv6286391, essv6503384, essv6272323, essv5893327, essv6042240, essv5570777, essv5746459, essv5708785, essv5972432, essv6200497, essv5450019, essv5538788, essv6170196, essv5772967, essv6035419, essv6578919, essv6014519, essv5863879, essv5461885, essv6197459, essv6129905, essv5936557, essv6003573, essv6461577, essv5862865, essv6392924, essv5503970, essv6484529, essv6034753, essv5472180, essv5517170, essv5918973, essv6503593, essv6435070, essv6138726, essv5554733, essv6307318, essv6575599, essv5968599, essv5748820, essv6189578, essv5850319, essv5524664, essv5501159, essv5981866, essv5773110, essv6173526, essv6357789, essv5447340, essv6510056, essv6597743, essv5768164, essv5947768, essv6453801, essv5844233, essv6021095, essv6225582, essv5447401, essv6200344, essv5495437, essv5751642, essv5932008, essv6575861, essv6591150, essv6016317, essv5435106, essv5629153, essv6191429, essv6339239, essv5919916, essv5516872, essv6152688, essv5410332, essv5972649, essv6440776, essv5973510, essv6334077, essv6550135, essv6371052, essv6189461, essv5712780, essv6044003, essv6362495, essv6349062, essv6031151, essv5747383, essv6166627, essv6340310, essv5494725, essv6076620, essv5924790, essv6208996, essv5536972, essv5698049, essv6548791, essv5696295, essv5501105, essv5610074, essv5556249, essv5402615, essv6558263, essv5812061, essv6451299, essv5779808, essv5526974, essv5925281, essv6328951, essv6274102, essv6327424, essv6430665, essv5445677, essv6158932, essv5899853, essv6066785, essv5618294, essv6136216, essv6564982, essv5921652, essv6446733, essv5440394, essv6472844, essv5673640, essv5737425, essv6172241, essv6145521, essv5400644, essv5699050, essv6139387, essv6551335, essv5832620, essv5627959, essv6580852, essv6242254, essv6295588, essv6580884, essv6447520, essv6283436, essv5988960, essv6413465, essv6421967, essv5475882, essv6336378, essv5520139, essv6039016, essv6204307, essv5932120, essv5671617, essv6218577, essv5931057, essv5958684, essv6337051, essv6089352, essv5764665, essv5772651, essv5759603, essv6361630, essv6143196, essv5737526, essv6031230, essv5497069, essv5972363, essv5620190, essv6550690, essv5827703, essv5847784, essv5594742, essv5851128, essv5673066, essv6158993, essv6050161, essv6065139, essv5422868, essv6305895, essv6523920, essv6178957, essv6294264, essv6183832, essv5707653, essv6420516, essv5959432, essv5880216, essv6308155, essv5659863, essv6069905, essv5740734, essv5843120, essv5756934, essv6432629, essv6230146, essv5548465, essv5789026, essv6503623, essv6303302, essv5494950, essv6342934, essv6423917, essv6235513, essv6256439, essv6477157, essv5398707, essv5719671, essv6373576, essv5435584, essv5829077, essv5978920, essv5817932, essv5674880, essv6522767, essv5752502, essv6094049, essv5998231, essv6588447, essv6230338, essv6253507, essv5824355, essv6457385, essv5730459, essv5606616, essv5450802, essv6554790, essv5564901, essv5716715, essv6032587, essv6049272, essv6366840, essv5951332, essv6010931, essv5485438, essv5749184, essv6114326, essv6564785, essv6301758, essv5965414, essv5797134, essv6020953, essv6262529, essv5702921, essv6307206, essv5529196, essv5465765, essv5722380, essv5748127, essv5961536, essv6502980, essv5542142, essv6313969, essv6314963, essv5868063, essv5657818, essv5903567, essv6415016, essv5916583, essv6434760, essv6263877, essv6397879, essv5547876, essv5510815, essv5925908, essv5446866, essv5795469, essv5816102, essv6507430, essv6580995, essv6386736, essv5657622, essv6321948, essv5843239, essv5816282, essv6284774, essv6516016, essv6148448, essv5515119, essv5747052, essv6471211, essv5895212, essv5883354, essv6354538, essv5553887, essv5606233, essv5954273, essv6553023, essv6468197, essv6232507, essv5919492, essv6145976, essv6127518, essv5492676, essv6270466, essv6099656, essv6020059, essv5442463, essv5796704, essv5620715, essv6079767, essv5490328, essv6441120, essv6053535, essv6306879, essv5786211, essv6138383, essv5435386, essv6532320, essv5665686, essv6234797, essv5769589, essv5620183, essv6320534, essv6161850, essv6077139, essv5566689, essv6210940, essv5471988, essv6269203, essv6508106, essv6366525, essv6545420, essv6068881, essv5936172, essv6373674, essv6077068, essv5827315, essv6167439, essv5936676, essv6083985, essv5900656, essv6334483, essv6076025, essv6570924, essv5938216, essv6534476, essv6103754, essv6421144, essv6272748, essv5864695, essv5896940, essv6185382, essv5487206, essv5801869, essv5690896, essv6418791, essv5502303, essv6229409, essv6487412, essv6221829, essv5877827, essv6001708, essv5490278, essv6456581, essv5770254, essv5953434, essv5917642, essv5436848, essv6573966, essv6110587, essv6206757, essv6499436, essv5920201, essv5473668, essv5572886, essv6350389, essv6220029, essv6310290, essv5687566, essv6446693, essv5925783, essv6372203, essv5712124, essv5665985, essv5680297, essv6460035, essv6511485, essv5533912, essv5898021, essv6094153, essv5624395, essv6019638, essv6178197, essv6481426, essv6292861, essv5912365, essv5955198, essv5789660, essv5818141, essv5567984, essv5765474, essv5441365, essv5828591, essv5903802, essv6002578, essv6124582, essv6568476, essv6520154, essv5588834, essv5986095, essv6556459, essv6316416, essv6513934, essv6538408, essv6419278, essv6158251, essv5859568, essv5906811, essv6298947, essv6175560, essv5608147, essv5410749, essv5667951, essv5797689, essv5460904, essv5501069, essv6286847, essv5970719, essv5952510, essv6158616, essv6530041, essv6177243, essv5650020, essv6266573, essv5629842, essv6555958, essv5638989, essv5518444, essv5867681, essv6423724, essv5718936, essv5563805, essv5811122, essv6210267, essv6199623, essv5940517, essv5983139, essv6459664, essv5654826, essv6549262, essv5738831, essv6478315, essv5504510, essv5819239, essv6030266, essv6311960, essv6211096, essv5664890, essv6120603, essv5870779, essv5401156, essv6252521, essv6062783, essv5485664, essv6388521, essv6538243, essv6310444, essv5885648, essv5623862, essv5896409, essv6100356, essv6258081, essv5630515, essv5605182, essv6425853, essv5792540, essv6319872, essv6060912, essv5702531, essv6513777, essv5608484, essv6046024, essv6051840, essv6079948, essv5948958, essv5989551, essv6419874, essv6177916, essv6362022, essv5441741, essv6313128, essv6063885, essv5481658, essv6313098, essv6358695, essv5939904, essv5431920, essv5983544, essv5688383, essv5691270, essv5869899, essv5619270, essv5904883, essv6473840, essv6521127, essv6000809, essv6441929, essv6575516, essv5679129, essv5871021, essv5716635, essv6020390, essv5974644, essv6068053, essv6278452, essv6383761, essv5843343, essv6174310, essv6245110, essv6560299, essv5511524, essv6130334, essv6373404, essv6242746, essv5884426, essv5754826, essv5797890, essv6558638, essv6180725, essv6302819, essv5573860, essv5991947, essv6023277, essv5614013, essv6254582, essv6006010, essv5470821, essv5860166, essv5583178, essv5923406, essv5471366, essv5600695, essv5542673, essv5633823, essv5460180, essv5595783, essv6239502, essv6262956, essv5989784, essv6106604, essv6262459, essv5476180, essv5784888, essv6170281, essv5526204, essv5581731, essv6190100, essv6419181, essv6574496, essv5716332, essv6168410, essv5512578, essv5974751, essv6434903, essv5929650, essv6500961, essv5851666, essv5702062, essv6588073, essv5832589, essv5679984, essv6061078, essv5416022, essv6176797, essv6132005, essv5685623, essv6370215, essv5648101, essv5495090, essv5892701, essv6380106, essv5654031, essv6531128, essv5823785, essv5612234, essv5572151
SamplesHG00613, NA19207, NA18870, NA19248, NA19312, NA12154, NA18951, NA18530, NA18535, NA18871, NA12286, NA19081, HG00328, NA18523, HG00705, HG00437, HG00500, HG00112, HG00274, HG00464, NA12347, NA19093, HG00131, NA20544, NA19311, NA11918, NA19469, NA20346, NA19223, HG01079, HG01389, NA20296, HG00463, NA18516, HG01365, NA19334, NA19331, NA18953, HG01488, NA18517, HG00428, NA18947, HG00542, NA18541, NA19144, NA18546, NA12058, NA18507, HG00334, HG00404, HG01101, NA19257, NA19701, NA19236, NA20322, NA18505, NA19472, NA20803, HG00156, HG00353, NA18868, HG00556, NA11919, NA19239, NA18627, NA19076, HG01375, HG00421, NA12004, NA18635, NA19917, NA18536, NA18622, HG00259, NA19197, NA19443, NA18623, NA19471, NA19107, NA19444, NA18617, NA18990, HG00692, HG01183, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, NA20127, HG00315, NA18956, NA19429, NA19908, NA18959, HG00533, NA18609, NA11843, NA19985, NA11831, NA11894, NA12400, NA18637, NA11995, NA18916, HG00634, NA18593, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, HG00343, NA12144, HG00662, NA19324, NA12751, NA19190, NA19055, HG00373, NA19247, NA19360, NA19725, NA19313, NA19380, NA19395, NA19080, HG01097, NA07346, NA12716, NA19129, NA19189, NA19372, NA18633, NA20291, HG00653, NA19374, NA20348, HG00732, NA12778, HG00325, NA12348, HG00185, NA18968, NA19102, NA19005, NA18510, NA19119, NA19002, HG00501, HG01069, HG00249, NA11892, NA18961, HG00277, HG01080, HG01351, NA20815, HG00740, HG00534, NA12283, NA19328, NA18910, NA19711, NA19789, NA18940, NA19235, NA12891, NA18619, NA12890, NA20525, HG00427, NA18597, NA19921, NA19138, NA19376, NA12272, NA18909, NA19391, NA19201, NA20276, NA18538, NA12413, NA19009, NA12889, NA19116, NA18631, NA19431, NA20289, NA20287, HG00118, NA18544, NA19818, HG00608, HG00654, NA12878, NA18614, HG00530, NA18548, NA11830, HG00123, HG00285, NA18944, NA19225, NA12546, HG01366, NA18499, NA18924, NA19371, HG00708, NA19198, HG01108, NA18610, NA12045, NA19315, NA11932, NA11829, NA19130, NA19240, NA19346, HG00275, HG00625, HG00690, NA12717, NA19204, HG00473, NA18981, NA19350, NA18908, NA20804, HG01377, NA18615, HG00671, NA19087, HG00702, HG00704, NA18555, NA19385, HG00271, NA19661, HG00531, HG01354, HG00327, NA20281, NA19137, NA12827, NA18964, NA12043, NA19152, NA19445, NA19625, NA12249, NA18861, NA19436, HG00318, HG00536, NA11930, NA07037, NA20278, HG01250, HG00344, HG01072, HG01075, NA18561, NA18933, NA19404, NA18952, NA18975, NA07056, NA18874, HG00369, NA18612, HG00245, HG00596, NA19401, HG00736, NA19060, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, NA18511, NA06989, NA20299, NA12340, NA20294, NA18948, NA19430, NA11931, NA19317, NA12813, HG00117, HG01492, NA19451, NA18972, NA19010, NA19338, NA20342, HG00326, NA18573, NA18608, NA18542, NA19461, NA19210, HG00701, NA19834, NA20588, NA12776, HG01461, NA20314, HG00651, NA19004, HG00557, HG00578, NA11893, NA19108, NA18965, NA19355, NA19474, NA19084, NA19780, NA12341, NA12044, NA19467, NA19147, NA18626, HG00479, NA19438, HG00256, NA18632, HG00342, HG00543, HG00154, NA18559, NA19914, NA20761, NA19067, NA19428, NA18912, NA19383, NA19982, NA12843, NA18624, HG01140, NA18508, NA19054, NA19059, NA12282, HG00472, HG00583, NA12383, NA18566, NA11994, NA19068, NA12155, NA18576, NA18960, NA18563, NA18618, NA07357, NA19900, HG00610, HG00372, HG01047, HG00689, NA19396, NA20754, NA18856, HG00628, NA19397, HG00330, NA18638, NA19398, NA19440, NA19066, NA11933, NA20541, HG00150, HG00419, NA18547, NA12829, NA18976, NA19256, HG01136, NA18973, NA19835, NA20282, NA20336, NA19658, NA18982, HG00254, NA19056, HG00403, NA12830, NA18634, HG00584, NA19316, NA18539, NA12006, NA19213, HG00436, HG00620, NA19377, NA19153, NA12046, NA18537, NA18620, NA19172, NA12892, NA18572, NA19703, HG00268, HG01066, NA19375, NA19393, NA20126, HG00629, NA18498, NA18486, HG00559, NA06986, NA18522, NA19238, NA20334, NA20344, HG00260, NA18502, NA19713, HG01073, NA18558, NA18977, NA19098, NA18941, NA19901, HG00273, HG00282, NA18504, NA19704, NA18487, NA18564, NA18858, NA18942, NA19347, NA19332, NA19909, NA18613, NA18988, HG00329, HG00512, NA19707, NA18562, NA19074, NA19131, NA19159, NA18579, NA18974, NA18985, NA19462, HG00589, NA18945, NA18606, NA18543, NA11832, NA10851, NA18582, NA18999, HG00595, NA18552, NA18983, HG00443, NA18599, NA18907, NA18567, HG00611, NA12749, NA20332, HG00650, NA06984, NA18867, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, HG00580, NA18971, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, NA20509, NA19452, NA20507, NA11992, NA12003, NA19064, HG00281, NA19063, NA19327, NA18917, NA11993, NA12399, NA19399, HG00656, NA12842, NA19160, NA19655, NA18571, HG00422, NA19916, NA19070, NA19470, NA18984, NA18611, HG01125, NA19171, NA18532, NA18549, NA18574, NA18853, HG00442, HG01102, HG01462, NA19079, NA19381, NA19473, HG00684, NA06994, HG00476, NA19448, NA20517, HG00272, HG00345, NA20538, NA19200, NA19007, HG00136, NA18519, NA19065, NA07000, NA12775, NA18980, HG01067, NA19439, NA11881, NA18621, NA12489, HG00252, NA18605, NA07347, NA19712, NA18520, NA18595, HG00182, NA19904, HG00619, NA18534, NA18630, HG00418, HG01519, NA19819, NA12342, NA19437, NA19114, NA11920, HG01083, NA19209, NA18501, NA18526, NA20535, NA10847, NA18545, NA18603, NA19319, NA20759, HG00657, NA19359, HG00614, HG01051, NA12828, HG00475, NA19449, NA19920, NA12005, NA18489, NA19379, HG00698, NA18963, NA07051, NA19651, HG00280, HG01168, HG00319, HG00253, HG00699, NA12287, NA18943, HG01171, NA18596, NA18949, NA20340, NA12414, NA19077, HG01107, NA19062, NA19463, NA19085, HG00346, NA18967, HG00593, NA19390
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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