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 Variantsessv5457926, essv6380538, essv5953547, essv6308044, essv5967261, essv5764616, essv5440963, essv5707864, essv5641358, essv6122312, essv6574914, essv5992253, essv6543359, essv5732451, essv5826096, essv5476111, essv5784343, essv6146733, essv6504416, essv5518261, essv6217810, essv5870550, essv5855099, essv5517562, essv5867054, essv5658921, essv6520809, essv5937793, essv5513768, essv6404418, essv6372624, essv5398683, essv6110037, essv5465995, essv6223917, essv5532484, essv6107280, essv5655491, essv5601534, essv5634793, essv5507223, essv6405069, essv6341825, essv6523005, essv5439631, essv6207219, essv6087631, essv5709634, essv5544841, essv6417980, essv6500343, essv6071521, essv6357038, essv6095510, essv5745968, essv5431201, essv5942940, essv6552131, essv6244470, essv6370626, essv6342021, essv5831712, essv6542944, essv5617806, essv6340764, essv6265657, essv6279908, essv6256948, essv5837941, essv5423510, essv5825091, essv5954645, essv5492120, essv6237611, essv5613403, essv5993302, essv6598182, essv6332371, essv6228705, essv6546801, essv5822495, essv5845094, essv6427586, essv5990828, essv6538305, essv6555028, essv6397888, essv6461150, essv6049886, essv6343895, essv5974176, essv6420097, essv5694229, essv6228864, essv6564308, essv6505789, essv6347416, essv6144994, essv5413971, essv5522623, essv6450736, essv5892877, essv6082465, essv6059283, essv6528780, essv5894502, essv6017618, essv6429408, essv5538999, essv5447512, essv6464765, essv6128004, essv6036432, essv6503296, essv6455556, essv5849084, essv6184432, essv5399770, essv5611914, essv6216371, essv5709488, essv6541720, essv6297338, essv5447978, essv5584434, essv6585617, essv6060856, essv6152029, essv6039803, essv5975667, essv5593396, essv5701599, essv5466892, essv6065347, essv5925002, essv5824005, essv6128144, essv6388068, essv6106429, essv5805341, essv6058557, essv5621602, essv6323545, essv5647711, essv6449211, essv6154527, essv6274552, essv6220739, essv5556558, essv5942461, essv5450940, essv5747264, essv5732622, essv5470132, essv5448633, essv6046773, essv5842733, essv5712890, essv5782217, essv6218372, essv6163985, essv6541637, essv6220090, essv5769657, essv5689425, essv5621407, essv6297036, essv5522569, essv6511989, essv6199812, essv6011275, essv6413752, essv6544684, essv5708856, essv5433804, essv6174093, essv6113959, essv6402066, essv6506442, essv5961221, essv6593672, essv5807655, essv5936008, essv6216041, essv5452867, essv5981423, essv5466332, essv6150214, essv6002111, essv5440607, essv6454580, essv6480061, essv6315563, essv6045954, essv6024866, essv5949941, essv5930567, essv5633868, essv6190878, essv5536918, essv6401794, essv6256341, essv5726257, essv6569846, essv6056341, essv5775669, essv5837573, essv5434633, essv6441721, essv5627475, essv6573743, essv5866496, essv6194162, essv6110127, essv5482727, essv6188764, essv5603761, essv6345489, essv5603337, essv5461454, essv6200330, essv6240890, essv5884527, essv5727131, essv6028304, essv5867741, essv5908875, essv5922169, essv6070853, essv6056137, essv5960981, essv6560128, essv5777467, essv6266867, essv6150152, essv6174163, essv5619806, essv5623121, essv6252991, essv5610232, essv6441534, essv6259561, essv5475397, essv6206222, essv6159344, essv5488043, essv6473053, essv6015155, essv5708875, essv5684044, essv5880454, essv6453521, essv5545589, essv5700961, essv6260650, essv5477346, essv6182710, essv5922592, essv6298123, essv6229973, essv5653160, essv6431528, essv6362591, essv5722016, essv5996399, essv5778614, essv5469509, essv5720813, essv5635735, essv5504674, essv6069886, essv6550968, essv6478261, essv6007430, essv6255203, essv6151248, essv6471723, essv5912982, essv6465406, essv6186138, essv5520866, essv6579151, essv6136846, essv6567761, essv5450346, essv6079709, essv6351752, essv5635010, essv5855927, essv5622043, essv6288667, essv6205081, essv6154106, essv6453593, essv6213857, essv5817157, essv5829387, essv6056169, essv6564020, essv6017793, essv5903607, essv6074548, essv6028073, essv6520975, essv6514883, essv6454548, essv5699355, essv5965162, essv5888526, essv5638120, essv5805386, essv6250663, essv6541644, essv6327860, essv6226378, essv5775533, essv6403555, essv5697537, essv6274062, essv5797611, essv6484770, essv6192666, essv6110606, essv6068976, essv5850563, essv5652806, essv5657610, essv6083518, essv6388555, essv6169815, essv6158092, essv6020783, essv6249552, essv5831416, essv5461844, essv5479379, essv6473858, essv6534369, essv6516703, essv6390124, essv5881760, essv5824970, essv5799539, essv5760953, essv5474955, essv5954373, essv5847237, essv5650647, essv5533924, essv5438846, essv5574687, essv5523080, essv6095493, essv5802599, essv6242364, essv5834521, essv5426803, essv6516727, essv6369962, essv6043117, essv5641630, essv5677971, essv6449413, essv5496937, essv6425655, essv6260549, essv6361331, essv5758394, essv6134644, essv5837085, essv6083519, essv6331697, essv6259060, essv6153065, essv5728890, essv5434152, essv5817111, essv6539300, essv5731671, essv5933321, essv5716194, essv5964655, essv5468957, essv6067981, essv6166042, essv6476215, essv5560706, essv5508898, essv6116289, essv6316472, essv5819075, essv5690591, essv6551674, essv6371921, essv6103154, essv5698733, essv5599795, essv5467392, essv6009938, essv5940030, essv5683662, essv5764112, essv6065687, essv6162108, essv6403919, essv6401633, essv6200952, essv6090019, essv6048610, essv5828718, essv6353017, essv5478804, essv6126601, essv6578050, essv6035236, essv6231686, essv5943997, essv5477452, essv6555870, essv6062717, essv6342457, essv6048279, essv6359212, essv6552203, essv5731600, essv5794016, essv6017938, essv6168839, essv6491187, essv5775943, essv5777388, essv5454735, essv6010186, essv6494639, essv6327616, essv6355041, essv5696638, essv6104835, essv6444766, essv6247128, essv6443133, essv5789319, essv6528487, essv5614818, essv6393003, essv6587647, essv5912927, essv6054437, essv5746236, essv5605350, essv6201506, essv5485196, essv6000965, essv5694403, essv6444830, essv6451116, essv5602486, essv5901654, essv5665596, essv6087596, essv6403606, essv6076647, essv5974598, essv5921383, essv6454807, essv6318847, essv6292813, essv5942343, essv5700651, essv5472077, essv5778483, essv5532126, essv6369641, essv6453666, essv5936898, essv6376535, essv5948788, essv5509321, essv6334365, essv5734261, essv5531599, essv5896700, essv5469238, essv5589609, essv5732270, essv5840081, essv6379034, essv6109791, essv6028084, essv5583142, essv5544279, essv5818694, essv5991210, essv5453443, essv5945847, essv5617770, essv5561322, essv6288838, essv6547817, essv5479411, essv5967134, essv5936381, essv6249715, essv6391495, essv5892105, essv5630866, essv5591061, essv6598288, essv5597001, essv6314994, essv6155036, essv6596784, essv5811558, essv6463289, essv6385228, essv5862878, essv6085842, essv6490582, essv5827630, essv6441140, essv5744033, essv5442962, essv6264868, essv5414858, essv5623205, essv5844628, essv5398717, essv6547668, essv5596662, essv6320991, essv6046061, essv5924035, essv6200382, essv5691872, essv6296250, essv6279035, essv5681974, essv5699991, essv5542643, essv6038132, essv6390450, essv5941425, essv6343596, essv5789578, essv5553898, essv5551548, essv5946499, essv5958870, essv5455816, essv6472447, essv5992507, essv6536284, essv6587875, essv6033869, essv6389121, essv5756544, essv5823885, essv5824594, essv5413033, essv5597121, essv6426843, essv6104620, essv5967786, essv6251312, essv6442009, essv5438819, essv5553774, essv6103504, essv5989268
SamplesNA20588, NA18502, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA18947, NA19664, NA12414, NA11931, HG00257, NA18999, HG00233, NA19684, NA18530, HG01518, NA18633, NA20806, HG00337, NA12813, HG00138, HG01350, HG00589, NA20589, HG01177, NA19678, HG01167, NA20756, NA20795, NA18558, NA18547, NA18960, NA18618, NA18574, NA11918, NA18582, NA20768, HG01365, NA19384, HG00537, HG00243, NA19079, HG00158, HG00512, HG00139, NA20759, HG00335, NA20775, HG01519, NA20812, NA19238, NA19239, NA18985, NA20757, NA19985, NA20515, NA19789, NA19921, HG00137, NA18951, NA18605, HG00731, NA20800, NA18538, HG00266, NA19056, NA12878, NA20521, HG01095, HG00657, NA20810, NA20760, NA19717, NA19081, NA12718, NA20519, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, HG01102, NA19084, HG00690, HG00404, NA12829, NA19750, NA19453, NA18532, NA19059, HG01334, NA19009, NA19452, NA19682, HG00463, NA19318, NA19395, HG00126, NA19625, NA18593, HG01107, NA20799, HG00611, NA19652, NA18564, NA18628, HG00580, NA20520, NA19010, HG00116, NA19083, NA18943, HG00662, NA18615, HG01342, NA12347, HG00614, HG00513, HG00478, NA18631, HG00267, NA18609, NA19102, NA19770, NA20503, HG00595, NA18989, HG00628, NA18624, NA18612, NA19074, HG01437, HG00581, NA18577, NA11832, HG00593, HG00626, HG01060, HG01441, NA19648, NA19700, HG00592, NA19055, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, HG00100, NA18561, NA19704, NA18599, HG01389, HG00306, NA20813, NA18603, HG00699, NA19819, NA12004, HG00150, NA20507, NA19190, NA18526, NA12413, NA12341, NA20537, NA19068, HG01250, NA19076, NA18550, NA19728, NA18595, HG00702, HG00689, NA19723, NA18635, HG00330, NA20769, HG00634, NA18942, HG00736, HG00610, HG01354, NA19313, NA12287, NA19054, NA18498, NA20513, NA19681, NA20336, HG01110, HG00590, NA20541, HG00277, NA12005, HG00683, HG01170, NA19719, NA20340, NA19075, NA18617, HG01176, NA12889, NA19189, NA18520, HG00338, NA12828, NA18973, HG00530, HG00419, NA19451, NA18638, NA12748, HG00464, NA20818, NA19007, HG00543, HG01136, HG00560, NA19247, NA18613, HG00629, HG01360, HG00183, NA19082, NA19707, NA20787, HG01384, NA19077, HG00428, NA19347, NA20809, NA19391, HG00475, NA19982, HG00584, HG00500, NA19788, NA18910, NA20344, HG01094, NA19000, NA19655, NA18499, HG01383, NA12892, NA19756, NA20542, NA18576, NA20526, NA19685, NA19401, HG00476, HG00119, NA18535, NA19834, NA18952, NA18543, HG00565, NA18950, NA19732, HG00638, NA07051, HG00607, HG00319, HG01108, HG00256, HG00125, NA20341, NA19759, NA19078, HG00707, HG00672, HG00578, NA20582, HG00329, NA18987, NA19713, NA12830, NA20807, NA19726, NA18972, HG00372, HG00252, HG00472, NA07056, NA18505, NA19004, NA18549, HG01191, HG00437, NA19701, HG00542, HG01173, HG00143, HG01462, NA19909, HG00671, NA19066, NA10851, HG00559, NA12273, HG01066, NA20816, HG00244, NA18959, NA18616, HG00449, HG00654, HG01051, NA20356, HG00261, NA20771, NA18602, HG00693, NA18988, NA18627, HG00271, NA19107, HG00663, NA20814, NA18563, HG00641, NA18940, NA19319, NA18597, NA18567, NA19062, NA18571, NA19904, NA11930, HG01069, HG01080, NA20278, HG00148, NA12156, HG00325, NA19372, NA12044, NA11994, HG00534, NA19235, HG00705, NA19722, HG00160, NA18990, NA18557, HG01048, NA20342, HG00253, NA18539, NA20753, HG01124, NA19908, HG00443, HG00380, NA19670, HG00557, HG00368, HG00556, HG00583, NA18534, HG00551, HG00239, NA19654, HG00284, NA19461, NA11919, HG00651, NA18626, HG00531, HG00479, NA20581, HG00684, HG01101, NA18553, NA19099, NA18555, HG00152, HG00146, NA18963, HG00704, NA19469, NA18570, NA18541, HG01075, NA19012, NA18974, NA12043, NA18953, NA19003, HG00258, NA18632, NA19390, NA19147, HG00625, NA19747, HG00353, NA20815, NA19072, HG00734, NA20790, NA20530, NA19835, HG00473, NA20778, NA19324, NA20544, HG00418, NA18610, HG00620, HG00339, NA18501, HG00342, NA19474, NA20510, NA18636, HG00310, NA20786, HG00280, NA20758, NA19080, NA19780, NA18983, NA20502, NA11892, HG01111, NA19316, HG01125, HG00171, NA12890, NA20585, NA19063, NA12154, NA19346, NA19676, NA18620, HG00403, NA11830, HG01098, HG01356, HG00536, HG00231, HG00249, HG00361, HG00524, HG00640, HG01465, NA18545, NA19777, NA19057, NA18596, HG00566, NA18606, HG00179, NA07357, HG00327, NA18967, HG00127, NA19381, NA20796, NA19005, NA18944, HG01070, HG00501, NA19382, NA19448, HG01488, HG00448, NA20586, NA18982, NA12891, NA12348, NA11992, HG00346, NA12283, NA19088, HG00369, NA19782, NA18964, NA18611, HG01455, HG01067, NA06984, NA18977, HG01495, NA19385, HG00422, NA18986, HG00427, NA20811, NA19901, HG00159, NA19445, NA18975, NA20533, HG00739, NA11993, NA18614, NA11831, HG00313, HG01183, NA18544, NA19437, NA18934, HG00328, HG00653, HG00577, NA18956, HG00701, HG00320, HG00533, NA18637, NA19658, NA18630, HG00619, HG00708, HG00635, HG00273, NA19114, NA11894, NA20538, HG00613, HG00321, NA12827, NA18634, HG01204, NA19436, NA18546, NA18608, NA20522, NA18961, HG00357, NA18941, NA20804, NA19240, HG00278, NA19773, NA19380, NA19144, NA19334, NA19085, NA06986, NA19398, NA18971, HG01491, NA19060, HG00421, HG00656, HG01254, HG00123, HG00186, HG00698, NA20528, HG01251, NA19661, HG01082, NA19758, HG01112, HG00554, HG00180, NA18622, NA18562, NA18965
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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