A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664819



Internal ID9930924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30796565..30798838hg38UCSC Ensembl
chr19:31287472..31289745hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382274
hg192274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5713409, essv6405118, essv6477774, essv5762201, essv6061751, essv5637145, essv6523969, essv5945438, essv5398682, essv5522990, essv5473258, essv6191002, essv6182404, essv6350565, essv6032300, essv6335968, essv5540227, essv6117371, essv5686883, essv6529444, essv5790265, essv5640230, essv5647645, essv6058388, essv6034927, essv6461287, essv5925526, essv6128208, essv5979676, essv6477329, essv6555667, essv5492062, essv5564559, essv5815179, essv5782537, essv6415001, essv5496494, essv5431040, essv6508901, essv5863743, essv5428115, essv6306355, essv6237399, essv5926270, essv5722720, essv5440619, essv6099124, essv5890300, essv5614482, essv6029771, essv5741200, essv5639417, essv5887463, essv5739944, essv5543813, essv5414737, essv5447579, essv6301572, essv5785475, essv5404583, essv6505045, essv6357592, essv6517779, essv6562839, essv6295225, essv5856398, essv5769258, essv5548304, essv6553640, essv5954393, essv5517801, essv5635612, essv5741146, essv5409396, essv6399780, essv5607958, essv5760045, essv5656388, essv5902315, essv5635351, essv6467419, essv5461219, essv6108791, essv5707200, essv6381475, essv5616423, essv5849361, essv5817501, essv5496203, essv5828015, essv5687694, essv5447602, essv6368894, essv6239028, essv6215628, essv6059466, essv5753059, essv6296280, essv5483702, essv6311014, essv5860328, essv5594580, essv5649275, essv5702999, essv6262226, essv5405200, essv6114927, essv5397993, essv6225804, essv6400348, essv6201881, essv5940039, essv5745177, essv6158335, essv6575505, essv6426710, essv5849643, essv6542516, essv6086406, essv5727362, essv6257443, essv6170750, essv6197791, essv5760452, essv5748202, essv6499794, essv6210167, essv6432080, essv5873652, essv6511611, essv5637097, essv5606161, essv6269138, essv5632507, essv6589892, essv6370453, essv6350646, essv6505878, essv6441533, essv6474148, essv6077064, essv6470857, essv6278716, essv6060889, essv5915445, essv5510328, essv6011849, essv6244026, essv6395308, essv6413218, essv5454470, essv5987879, essv6243346, essv6491798, essv5728107, essv5942177, essv6558055, essv6547874, essv5868583, essv6240417, essv5985217, essv5639429, essv5537805, essv6244405, essv5889450, essv5789067, essv6551420, essv5974046, essv6189295, essv5968538, essv6594379, essv5617478, essv5958812, essv6343433, essv6381113, essv6322386, essv5732107, essv6565422, essv6530371, essv5567540, essv5408207, essv6547583, essv5431370, essv6156445, essv5917658, essv5459599, essv6385909, essv6402838, essv5496486, essv5730003, essv5682183, essv5538386, essv6526062, essv6219834, essv5767381, essv6239723, essv6407465, essv5911018, essv5468355, essv6012646, essv6183097, essv5947464, essv5979736, essv5946629, essv5509157, essv6368283, essv6484958, essv6371712, essv6440823, essv5869674, essv6372842, essv5728610, essv5919157, essv5511997, essv6408702, essv6373793, essv5600776, essv5529754, essv6198427, essv5515668, essv6431847, essv6112755, essv6515730, essv5431512, essv6270059, essv6037623, essv5655690, essv5462246, essv5745234, essv6090283, essv6540509, essv5767947, essv6414907, essv6236993, essv5835135, essv5456549, essv6334006, essv5490094, essv6228017, essv6268449, essv5687434, essv6263006, essv5933524, essv5615308, essv6435130, essv5977883, essv6333949, essv6109931, essv5983368, essv6468726, essv5759159, essv6261180, essv5464680, essv5936006, essv5595193, essv5585122, essv5784018, essv6061154, essv6557063, essv5732129, essv5989256, essv5433501, essv5698443, essv5663745, essv6541523, essv5558426, essv6560637, essv6352451, essv6252620, essv6592178, essv5529473, essv5462807, essv5819307, essv6200525, essv6581658, essv6178403, essv6045030, essv5904288, essv5835211, essv6180351, essv5459827, essv6236981, essv6494499, essv5682625, essv6432456, essv5401991, essv5794374, essv5968105, essv5413025, essv6110059, essv5609041, essv6206158, essv6187280, essv5583055, essv5993562, essv6140258, essv5963952, essv5589538, essv6042615, essv5858287, essv6592615, essv6381790, essv6474531, essv5953268, essv6019969, essv5400872, essv6226089, essv5411393, essv5546800, essv5940309, essv5826526, essv6160534, essv6132433, essv6243965, essv5541125, essv5668762, essv6306642, essv5917044, essv5607338, essv5792575, essv6082389, essv5874486, essv6206318, essv6277385, essv6145431, essv6273338, essv6150933, essv5675797, essv6355021, essv6150057, essv6017713, essv6473456, essv6363135, essv6289982, essv6200609, essv6178859, essv5660346, essv6487715, essv6168241, essv6437181, essv6411684, essv5539096, essv6581015, essv6453251, essv6399819, essv6564945, essv5612467, essv5784599, essv6153475, essv5756953, essv5708321, essv6424004, essv6170296, essv5871141, essv5949703, essv5429486, essv6524747, essv5784449, essv5973344, essv6198469, essv5629933, essv5667725, essv6126584, essv6375167, essv5495597, essv5397495, essv5535854, essv6245038, essv6125230, essv5628289, essv5561705, essv5809512, essv5951466, essv6522011, essv5633145, essv6093470, essv5584678, essv5630359, essv5818803, essv6592779, essv5905708, essv6198944, essv5603059, essv5823528, essv5621009, essv5709478, essv5623324, essv5582641, essv5901332, essv5890276, essv5911913, essv6554207, essv5907687, essv5486736, essv5563406, essv6181953, essv6305811, essv5849954, essv6259893, essv5795973, essv5835083, essv5471567, essv5844077, essv6248042, essv6418039, essv5869311, essv6416052, essv6448700, essv6093086, essv6009862, essv6426765, essv5942070, essv5849769, essv5585635, essv5736054, essv6540444, essv6138326, essv6125919, essv5544334, essv5574329, essv5709087, essv6244770, essv6072489, essv6572704, essv6577831, essv5869432, essv5567536, essv6586418, essv5737459, essv6171060, essv5637384, essv5556802, essv6333884, essv5654083, essv5681319, essv5499021, essv6393925, essv6057439, essv5964081, essv5875528, essv5441567, essv6529680, essv6006962, essv6015584, essv5849292, essv6010257, essv5496556, essv5776619, essv6364175, essv5994537, essv5999603, essv5918838, essv5752081, essv5484822, essv6116622, essv6001399, essv5833235, essv6159260, essv6273092, essv5886351, essv5727875, essv6044275, essv6019338, essv5799292, essv6286871, essv6275708, essv6042739, essv5990112, essv5912729, essv6547742, essv6152355, essv5619255, essv6127135, essv5648854, essv6211648, essv5404376, essv5745348, essv6475404, essv6458998, essv5607265, essv5946917, essv5676660, essv6356519, essv5982665, essv6082697, essv5414630, essv6517079, essv5810109, essv5663705, essv6142325, essv5583623, essv6159742, essv6080598, essv6022398, essv5787197, essv6252994, essv5771773, essv5642858, essv6468238, essv6323495, essv6370533, essv6491700, essv5610090, essv5765484, essv5475968, essv6311620, essv6545656, essv5697090, essv6287207, essv5414007, essv5437305, essv6401552, essv5997773, essv5546450, essv5504828, essv6332263, essv5499379, essv6003879, essv5431416
SamplesNA20588, NA18502, HG00442, NA19058, NA18621, NA19664, NA19399, NA11920, HG00257, HG00151, NA18999, NA18504, NA19684, NA18530, HG01461, NA18633, NA19067, HG00138, HG01350, NA19379, HG00589, NA19315, NA20798, NA19678, HG01167, NA20795, NA18558, NA07048, HG01083, HG00537, HG00243, HG00158, HG00512, HG00281, NA19720, NA20775, NA18868, HG00326, NA19985, NA18867, NA19789, NA19921, HG00137, NA12777, NA18605, NA20535, HG00731, NA18538, NA19070, NA19056, NA20521, HG01095, NA20810, NA19717, NA19663, HG00344, NA19081, NA12718, NA20519, HG00692, NA19064, NA18548, NA18537, HG01102, NA19084, HG00690, HG00404, HG00331, NA18532, NA06989, HG01334, NA19682, HG00463, NA12778, NA18593, HG01107, NA20799, NA19440, NA18517, NA19712, NA19434, NA18564, NA18628, NA19444, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, HG00116, NA19360, NA18615, NA12347, NA19328, HG00614, HG00513, NA18631, NA19779, HG00267, NA18873, NA19770, NA20503, HG00595, NA18989, NA18624, NA18612, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, HG01060, HG00114, HG01441, NA19648, HG00592, NA19055, NA19397, NA18924, NA18592, HG01052, HG01079, NA18561, HG01188, NA18599, HG01389, HG01374, NA20813, NA12045, HG00699, NA19819, NA12058, NA20346, HG00150, NA12400, NA12413, NA12341, NA20537, NA19068, NA19746, NA19660, NA18550, NA18595, HG00689, HG00173, NA18635, NA20769, HG00634, NA18942, HG00610, NA19197, HG00247, NA19054, NA20513, HG00590, HG01134, HG00277, NA19651, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, NA19371, NA18560, NA18617, NA19471, NA19087, NA19002, NA19725, NA19189, HG00338, HG00178, NA18908, HG00530, HG00419, NA18638, HG00464, NA19007, HG00543, HG01136, HG00560, NA19247, NA18613, HG00629, HG00183, NA19707, NA20524, NA19077, HG00428, NA20809, NA19982, HG00584, HG00500, NA19788, NA19776, NA19000, NA19655, HG00373, HG01197, HG01383, HG00141, NA18536, NA18576, NA20296, NA19401, HG00476, NA20801, NA18535, NA19834, NA18952, NA18543, NA18559, NA18950, HG00375, HG00638, NA07051, HG00319, HG01108, HG00125, NA19818, NA19759, NA19376, HG00707, HG00672, HG00578, NA19248, HG00312, NA20582, NA19472, HG00329, NA18987, NA19713, HG00343, NA18552, HG00252, NA18984, HG00472, NA07056, NA19004, NA20322, HG00345, HG01097, NA18549, NA12383, NA19701, HG01173, NA12842, HG00143, NA19703, HG01462, NA19909, NA12286, HG00671, NA19066, HG00242, NA18861, NA10851, HG00559, NA12273, NA20783, NA18565, HG01066, NA20816, NA20752, HG00244, NA19359, NA19355, NA12340, NA20332, HG00737, NA18616, NA20517, HG00654, NA19443, NA20771, NA18602, HG00693, NA18988, NA18627, HG00271, NA19107, NA20814, NA07346, HG00641, NA19373, NA18940, HG00272, NA18597, HG01351, NA19062, HG00334, NA20287, NA19130, NA11930, NA12275, HG01080, HG00148, HG00156, HG00325, NA11932, HG00232, NA19372, NA11994, NA19235, HG00705, HG00118, NA18990, HG01133, NA20753, HG00154, HG00443, HG00268, HG01171, HG00282, NA19403, HG00557, HG00732, NA19455, HG00556, HG00583, HG00263, HG00275, NA18871, NA18534, HG00239, HG00740, NA19654, HG00284, NA19461, HG00651, HG00250, NA18626, HG00479, NA20581, HG00684, HG01101, HG00140, NA18553, NA19099, NA18555, HG00152, HG00146, NA18963, HG00704, NA12144, NA19469, NA18570, NA12546, NA18541, HG01075, NA19012, NA12043, HG01148, NA18632, NA19390, HG00625, HG00353, NA20815, NA19072, NA12272, HG00734, HG01357, NA20790, HG01375, HG00473, NA20792, HG00237, NA19324, NA19311, NA20544, HG00418, HG00620, HG00339, NA18501, HG00259, HG00342, NA19468, NA19474, NA18636, HG00310, HG00280, NA11843, NA19080, NA19900, NA18983, NA19430, NA11892, NA19312, HG01125, HG00171, NA18623, NA19063, NA20754, NA19346, HG00553, NA19676, HG00403, HG01356, HG00536, HG00231, HG00249, NA11829, HG00524, HG00187, NA19332, NA20532, HG00367, HG00318, NA18486, NA18545, NA18596, HG00566, NA18606, HG00179, NA12155, HG01140, HG00327, NA19396, NA20796, HG01366, HG01070, HG00501, NA19448, HG01488, HG00448, NA20586, NA19198, NA18619, NA12348, NA11992, NA19088, HG00369, HG00270, NA19782, NA18611, HG01455, NA18874, NA20819, NA06984, NA18977, HG01072, NA19731, HG00422, HG01440, HG00309, HG00427, NA20811, HG00159, NA19445, HG00260, NA10847, HG01353, HG00313, NA18544, HG01187, NA18934, HG00596, HG00190, HG00653, HG00577, HG00436, HG00320, HG00533, NA20506, NA18630, HG00619, HG00708, HG00635, HG01390, HG01073, HG00273, NA18856, NA12249, HG00613, HG00525, NA19257, HG00276, NA20534, NA19675, NA19436, NA20765, NA18608, NA20773, NA18542, NA12716, NA18909, HG01190, NA18961, HG00366, HG00357, NA19435, NA18941, HG00278, NA19380, NA19334, HG01494, NA20516, NA19398, HG00111, HG01491, NA19060, HG00421, NA20334, HG01055, HG00123, HG00131, HG01378, HG01082, NA19758, NA07000, HG00554, HG00180, NA18622, HG01061, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664819
Frequency
Sample Size1151
Observed Gain0
Observed Loss519
Observed Complex0
Frequencyn/a


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