A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667427



Internal ID9586846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999395..33002225hg38UCSC Ensembl
chr2:33224462..33227292hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382831
hg192831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5775533, essv6463289, essv5777467, essv5764112, essv6403555, essv6389121, essv6342021, essv6342457, essv5479411, essv6186138, essv6024866, essv6033869, essv5953547, essv6256341, essv5811558, essv5477346, essv6544684, essv6017793, essv5817157, essv6017938, essv6431528, essv6453521, essv6453593, essv5605350, essv5991210, essv5450940, essv5731671, essv6049886, essv6514883, essv5936898, essv5683662, essv5958870, essv6048279, essv5946499, essv5439631, essv6455556, essv6327616, essv5744033, essv6028084, essv6552203, essv5720813, essv5601534, essv5551548, essv5641630, essv6103504, essv6376535, essv6516703, essv6056341, essv6385228, essv5431201, essv5778483, essv5819075, essv6194162, essv5707864, essv6574914, essv6104620, essv6182710, essv5655491, essv5940030, essv6043117, essv5653160, essv5794016, essv6539300, essv6379034, essv6417980, essv6405069, essv6516727, essv6441140, essv6444830, essv6560128, essv5477452, essv5837573, essv6279035, essv5677971, essv5954373, essv6095510, essv5454735, essv5457926, essv5634793, essv5633868, essv5912982, essv6327860, essv6334365, essv6370626, essv5747264, essv6297338, essv5630866, essv5769657, essv5828718, essv5513768, essv5892105, essv5975667, essv6288838, essv6413752, essv5942461, essv5708856, essv6113959, essv5712890, essv6288667, essv6315563, essv6331697, essv5440607, essv5700651, essv5921383, essv6528487, essv6154106, essv6473858, essv6355041, essv5413971, essv5732622, essv5434633, essv5635735, essv5849084, essv5965162, essv5840081, essv6104835, essv5508898, essv5760953, essv6010186, essv5452867, essv6403919, essv6564020, essv5482727, essv6146733, essv6494639, essv5619806, essv6152029, essv6546801, essv5775669, essv5834521, essv6213857, essv5522623, essv5896700, essv5805386, essv6015155, essv6401794, essv6491187, essv5708875, essv6153065, essv6449211, essv5924035, essv5518261, essv5802599, essv6298123, essv6578050, essv6587875, essv5908875, essv6244470, essv6520975, essv5453443, essv5922169, essv6353017, essv5622043, essv5461454, essv5867741, essv5413033, essv5974176, essv5504674, essv6402066, essv5756544, essv6292813, essv5658921, essv6551674, essv5478804, essv6038132, essv6136846, essv6162108, essv5448633, essv6144994, essv6249715, essv6347416, essv6134644, essv5398683, essv6404418, essv5862878, essv6390124, essv6451116, essv6260549, essv6184432, essv5447978, essv5468957, essv5545589, essv5726257, essv6166042, essv6542944, essv5818694, essv5936008, essv6046061, essv6357038, essv6071521, essv6332371, essv6226378, essv6109791, essv5689425, essv6388068, essv5614818, essv6169815, essv5993302, essv5520866, essv5948788, essv5992507, essv5782217, essv6573743, essv6252991, essv6199812, essv6361331, essv5709634, essv5538999, essv6200330, essv5617770, essv5807655, essv5536918, essv5981423, essv6017618, essv5996399, essv6279908, essv5544279, essv5831416, essv5805341, essv6074548, essv6107280, essv6168839, essv5647711, essv6380538, essv6472447, essv6528780, essv6237611, essv5933321, essv5665596, essv5652806, essv5967134, essv6046773, essv6247128, essv6297036, essv6340764, essv5461844, essv5426803, essv5467392, essv5593396, essv6220739, essv6274062, essv5450346, essv6207219, essv6401633, essv6444766, essv6192666, essv6259561, essv5844628, essv5438819, essv5469238, essv6585617, essv5734261, essv5716194, essv6564308, essv6587647, essv5466332, essv5789578, essv6095493, essv6028073, essv5697537, essv5399770, essv5553898, essv6110037, essv6343596, essv6369962, essv5699355, essv6065347, essv6159344, essv5823885, essv6059283, essv6228864, essv5492120, essv6547668, essv5613403, essv5922592, essv5941425, essv5728890, essv5847237, essv5597121, essv5709488, essv5442962, essv6260650, essv5533924, essv6443133, essv6506442, essv5990828, essv5532484, essv5888526, essv5892877, essv5488043, essv6205081, essv6058557, essv6316472, essv5960981, essv6255203, essv6369641, essv6471723, essv6345489, essv6504416, essv5694229, essv6461150, essv6065687, essv6069886, essv5440963, essv5954645, essv5638120, essv5531599, essv6420097, essv5825091, essv5850563, essv6541720, essv5992253, essv6362591, essv6039803, essv5691872, essv6450736, essv5778614, essv5817111, essv6158092, essv5967786, essv6308044, essv5701599, essv6538305, essv5599795, essv5881760, essv5866496, essv6045954, essv6231686, essv5699991, essv5746236, essv5829387, essv6476215, essv5936381, essv6228705, essv6341825, essv5523080, essv5700961, essv6106429, essv6265657, essv5627475, essv5657610, essv5681974, essv6359212, essv5423510, essv5617806, essv5597001, essv6150214, essv6490582, essv6068976, essv6070853, essv6593672, essv5696638, essv5574687, essv5641358, essv6465406, essv6251312, essv6550968, essv5745968, essv5930567, essv5989268, essv6250663, essv6429408, essv6079709, essv5698733, essv6036432, essv5479379, essv6020783, essv6110127, essv5544841, essv5602486, essv5694403, essv5842733, essv6371921, essv6391495, essv5465995, essv5870550, essv5967261, essv5912927, essv5949941, essv5775943, essv6223917, essv5542643, essv6201506, essv5827630, essv6426843, essv6473053, essv6390450, essv6520809, essv6056137, essv6543359, essv5611914, essv6425655, essv6598288, essv5433804, essv5470132, essv6200952, essv5824005, essv5556558, essv5591061, essv6087631, essv6478261, essv6343895, essv6154527, essv6083518, essv6536284, essv5635010, essv5507223, essv6442009, essv6190878, essv6449413, essv6007430, essv5845094, essv6174163, essv6372624, essv5623205, essv5831712, essv5925002, essv6579151, essv5603761, essv6028304, essv6555870, essv5942940, essv6552131, essv6569846, essv6547817, essv5894502, essv5777388, essv5937793, essv5974598, essv5496937, essv6062717, essv5509321, essv6264868, essv6454807, essv6523005, essv6318847, essv6011275, essv6035236, essv5945847, essv6216041, essv5901654, essv6116289, essv6128004, essv6555028, essv5837941, essv6500343, essv5884527, essv6320991, essv5758394, essv6126601, essv6259060, essv6090019, essv6103154, essv6188764, essv6128144, essv5438846, essv6323545, essv6266867, essv6085842, essv6200382, essv6427586, essv6403606, essv6567761, essv5764616, essv5903607, essv6256948, essv6351752, essv5589609, essv5596662, essv5867054, essv6000965, essv5447512, essv6484770, essv6155036, essv6541644, essv5650647, essv6150152, essv5621407, essv5799539, essv6505789, essv5466892, essv6054437, essv5476111, essv6122312, essv6174093, essv6541637, essv6048610, essv6083519, essv6076647, essv6163985, essv5414858, essv5472077, essv5584434, essv6534369, essv5475397, essv5942343, essv6060856, essv6598182, essv5964655, essv6388555, essv6480061, essv6067981, essv6249552, essv6454548, essv5398717, essv5517562, essv5603337, essv6393003, essv5560706, essv6110606, essv6229973, essv5824594, essv6453666, essv5522569, essv6217810, essv6314994, essv5610232, essv6240890, essv5880454, essv5561322, essv5961221, essv5826096, essv6056169, essv6441534, essv5684044, essv5623121, essv6087596, essv5434152, essv5855099, essv5943997, essv6397888, essv5727131, essv6511989, essv5469509, essv5822495, essv5855927, essv6151248, essv6206222, essv5553774, essv5837085, essv6218372, essv5784343, essv5797611, essv5690591, essv6464765, essv6242364, essv6216371, essv6596784, essv5455816, essv5732270, essv6454580, essv5485196, essv5789319, essv5824970, essv5474955, essv6296250, essv5722016, essv6009938, essv6082465, essv6220090, essv6274552, essv6002111, essv5621602, essv6503296, essv5532126, essv5583142, essv6441721, essv5731600, essv5732451
SamplesHG00613, HG01441, HG00380, NA12154, HG00257, NA18951, NA18530, NA18535, NA19081, HG00551, HG00328, HG00705, HG00437, HG00500, HG00186, HG00464, NA12347, NA20544, NA20796, HG00565, NA11918, NA19469, HG01079, HG01389, HG00463, HG01365, NA19334, HG00577, NA19788, NA19453, NA20800, HG01082, NA18953, HG01488, HG00428, NA18947, HG00542, HG00368, HG00148, HG01350, NA12005, HG00139, HG00739, NA18541, NA19144, NA18546, HG01167, HG00683, HG00698, HG00581, NA18963, NA19685, HG00404, NA07051, HG00280, HG00335, HG01101, NA19682, NA19701, HG00319, HG00253, HG00699, NA18505, NA18557, NA12287, NA20521, NA18943, NA18950, HG00353, NA18596, NA18628, NA20340, HG00554, HG00592, NA12414, NA19077, HG01107, NA19062, HG00158, HG00556, NA11919, NA19085, HG00346, HG01384, NA18967, NA19239, NA18627, NA19076, HG00593, NA19390, HG00421, NA12004, NA18635, NA20811, NA18622, HG01048, NA19107, NA20530, NA18617, NA18990, HG00692, HG01183, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, NA18956, NA19908, HG00338, NA18959, HG00533, NA18609, HG00125, HG01360, NA19985, NA11831, NA11894, NA18637, NA19075, NA20520, NA11995, HG00634, NA18593, HG00243, HG00284, NA19700, NA19082, NA20341, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, NA20769, HG00306, NA19247, HG00267, NA19313, NA19380, HG01111, HG01437, NA19395, NA19080, HG01465, NA19189, HG00233, NA19372, NA18633, HG00653, HG01191, HG00640, NA20760, NA19384, HG00325, NA12348, NA20790, NA20795, NA18986, NA19102, NA20753, NA19005, NA19664, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG01080, NA20815, HG00524, NA20542, HG00534, NA12283, NA18910, HG01383, NA20813, NA19789, NA19777, NA18940, NA19235, HG01094, NA12891, NA18987, NA12890, HG00427, NA18597, NA19921, NA20756, HG01095, NA19391, NA19723, NA18538, NA12413, NA19009, NA12889, NA18631, NA19747, NA18544, HG00608, HG00654, NA12878, NA18614, HG00530, NA18548, NA11830, NA20810, HG00123, NA18944, HG00142, NA18499, NA19732, HG00708, HG01108, NA18610, NA20758, HG00566, NA19756, HG01177, NA19240, NA19346, HG00119, HG00320, HG00625, HG00690, HG00641, HG00183, HG00473, NA18981, NA20804, NA20806, HG00626, NA18615, HG00671, HG00702, HG00704, NA18555, NA19385, HG00271, NA19661, HG00126, HG00531, HG01354, NA18553, HG00327, NA12827, NA18964, NA12718, HG00313, NA12043, NA19445, NA19625, HG00152, HG00734, HG01359, HG01518, NA19436, HG00536, HG00607, NA12748, NA11930, NA20522, NA20278, NA20809, HG01250, NA20503, NA20526, HG01052, HG00100, HG01075, NA18561, HG00127, NA18952, NA18975, NA07056, HG01342, HG00369, NA18612, HG00731, NA19401, HG00736, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, HG01098, NA20775, NA18948, NA19670, NA11931, NA12813, NA19451, NA18972, NA20816, NA20529, NA19010, NA20342, HG01491, NA18608, NA20778, NA20786, NA19782, NA19461, HG00701, NA19834, NA20588, HG01204, NA19648, HG00651, NA19004, NA19678, HG00557, HG00578, HG00146, NA18965, NA19474, NA19084, NA19780, NA12341, NA12044, NA19147, NA18626, HG00479, NA19654, NA20586, HG00256, NA18632, HG00342, HG00244, HG00266, HG00635, HG00543, HG01254, HG00321, HG00339, NA19726, NA20585, NA19982, NA20533, NA18624, NA18934, HG00179, NA19054, NA19059, NA20356, NA20515, HG00472, NA19652, HG00583, HG00337, NA11994, NA19057, NA19068, HG00638, NA18576, NA18960, HG00180, NA18563, NA18618, NA07357, NA20757, NA19722, HG00610, HG00231, HG00372, HG01495, NA20807, HG00689, HG00628, HG00330, NA18638, NA19398, NA19066, NA20541, HG00150, HG00419, NA18547, HG00258, NA12829, HG01136, NA18973, NA19835, NA20336, NA19773, NA19658, NA18982, NA19681, NA19056, HG00403, NA12830, HG00357, NA18634, NA20589, HG00584, NA19316, NA19684, NA18539, NA19676, HG00159, HG00620, NA18620, NA19759, NA12892, NA18572, HG01066, HG00629, NA18498, HG00559, NA06986, NA19238, HG01455, NA20344, NA18502, HG00560, NA19713, NA18558, NA18977, HG00239, NA18941, NA19901, HG00273, HG01176, HG01356, NA19704, NA20814, NA20818, HG00478, NA18564, NA18942, HG00116, NA19347, NA19909, NA18613, HG00513, NA20582, NA18988, HG00329, HG00512, HG01070, NA19707, NA18562, NA19074, HG01060, NA19382, NA19318, NA18974, NA18985, HG00589, NA18606, NA18543, NA11832, NA10851, NA18582, NA18999, NA20581, NA20537, HG00590, HG00595, NA18983, HG00443, NA18599, NA18567, NA19078, HG00611, HG01334, NA20799, HG00650, NA06984, HG00138, HG00663, NA12156, NA18989, HG00580, HG01112, NA19719, NA18971, HG00448, NA18602, NA18577, NA19099, NA19452, NA20507, NA20513, NA11992, NA19064, NA19770, NA19063, NA11993, NA19717, NA20812, HG00656, NA19655, NA18571, HG00422, HG01251, HG00693, NA18611, HG01125, NA20768, NA20528, NA18532, NA18549, NA18574, HG00442, HG00137, HG01102, HG01462, NA19079, NA19381, HG00684, HG00143, HG01110, NA19758, HG00476, NA19448, NA20502, NA20538, NA19750, HG00278, NA19007, NA20519, NA19058, NA18980, HG01067, HG00361, NA19012, NA18621, HG00537, HG00252, NA18605, NA20787, NA18520, NA18595, NA18616, NA20771, NA19904, HG00619, NA18534, NA18630, HG00418, HG01519, NA19819, NA19437, NA19114, HG01173, HG00171, NA20510, NA18501, NA18526, HG00160, NA18545, NA18603, NA19319, NA20759, HG00657, HG00614, HG01051, NA12828, HG00475
Known GenesLTBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667427
Frequency
Sample Size1151
Observed Gain0
Observed Loss569
Observed Complex0
Frequencyn/a


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