A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663498



Internal ID9582917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80186391..80186486hg38UCSC Ensembl
Outerchr18:80186343..80186549hg38UCSC Ensembl
Innerchr18:77944274..77944369hg19UCSC Ensembl
Outerchr18:77944226..77944432hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6484784, essv5476393, essv6072062, essv5654051, essv5510550, essv6474255, essv6569058, essv5673357, essv6462828, essv6289812, essv6384038, essv5505962, essv5741296, essv6119037, essv6150650, essv6159784, essv5420781, essv6303775, essv5456144, essv6074619, essv6037924, essv5502410, essv5789016, essv5906639, essv6561430, essv6511674, essv6300921, essv6119643, essv6188642, essv6513939, essv5797815, essv5874442, essv5910762, essv6029000, essv5742757, essv6420324, essv5845188, essv6119522, essv5814386, essv5426028, essv5414507, essv5987110, essv6386675, essv5987362, essv6516697, essv6446490, essv5645410, essv6392208, essv6134607, essv6383448, essv6390129, essv6174344, essv6582986, essv5399831, essv5680185, essv6471757, essv6263085, essv6501448, essv5856854, essv6142932, essv6171961, essv5975208, essv5498245, essv5961962, essv6455606, essv5847147, essv6066341, essv6278022, essv5968711, essv6129285, essv6441355, essv6376353, essv6102805, essv6334925, essv6556546, essv6129051, essv6075295, essv6409988, essv6474212, essv6573769, essv5742918, essv5454362, essv5818843, essv6132887, essv6021835, essv6332189, essv5718295, essv6345571, essv6572507, essv6367448, essv5863272, essv5593532, essv6460943, essv5462845, essv6406262, essv5847651, essv6186523, essv6220710, essv6298647, essv5697935, essv6372343, essv6502224, essv6426511, essv5658684, essv5879978, essv6240221, essv5473369, essv5842333, essv6362085, essv6478825, essv5612811, essv5399567, essv5598532, essv5545024, essv6108829, essv5485453, essv5542138, essv5792160, essv5574809, essv5573413, essv5755268, essv6478687, essv5827363, essv6495564, essv6307065, essv5513215, essv5962395, essv5812971, essv5962678, essv6142927, essv6162319, essv6343610, essv5792641, essv5829875, essv6271919, essv6014384, essv5530335, essv6221648, essv5775090, essv6014469, essv6507868, essv5800651, essv6269274, essv5744860, essv5918663, essv5920019, essv5805862, essv5851588, essv5681603, essv5621220, essv5831917, essv6246351, essv6180547, essv5920404, essv6594113, essv5412377, essv5838740, essv6535419, essv5937149, essv5798841, essv6367079, essv6153684, essv6530469, essv5797112, essv6387104, essv5598278, essv6018176, essv5532843, essv5890504, essv6375092, essv5575959, essv5864576, essv5615010, essv6379433, essv6440777, essv5487966, essv6435881, essv6409683, essv6506601, essv6056630, essv6492593, essv5598746, essv6013458, essv5632321, essv6215780, essv6533330, essv5544373, essv5566741, essv6192897, essv6434830, essv6472914, essv5725619, essv6235780, essv5604673, essv5915781, essv6529046, essv6436267, essv6535740, essv6558658, essv5720763, essv5995825, essv6393320, essv6397071, essv6518610, essv5710471, essv6416239, essv5712649, essv6050873, essv5451962, essv6269108, essv5450227, essv5601315, essv6211541, essv5737865, essv5468695, essv5848278, essv6391652, essv6543243, essv6359249, essv6479957, essv6490518, essv5535061, essv6556633, essv6448807, essv6035552, essv6050048, essv5548212, essv6023273, essv6339408, essv6443828, essv5593362, essv5974253, essv5672067, essv5772773, essv6352151, essv5915710, essv6150605, essv6449521, essv6562690, essv5631025, essv6568634, essv5604422, essv6078496, essv6160950, essv5948098, essv6129218, essv6250405, essv5441689, essv5463708, essv6116517, essv5630746, essv5798826, essv5685842, essv6507560, essv5453189, essv5969806, essv5402966, essv5681130, essv5822789, essv5904801, essv6272767, essv6289590, essv5649175, essv5796046, essv6419930, essv6095512, essv6164737, essv6249972, essv5823145, essv6435719, essv5627023, essv5957963, essv6279326, essv5901438, essv6508564, essv6556542, essv6405988, essv5854257, essv6449741, essv5810352, essv6430950, essv5993501, essv5904965, essv6491400, essv5925581, essv5712723, essv5442779, essv6176269, essv6064077, essv5496021, essv5437386, essv5936209, essv5884258, essv5780458, essv5625601, essv5923389, essv6484422, essv6386528, essv5454537, essv5998215, essv6196557, essv6244495, essv6431823, essv5667202, essv5593311, essv5789135, essv6501919, essv6236879, essv5970418, essv5560742, essv6596137, essv5520853, essv6327629, essv5424697, essv6085687, essv6301746, essv5973127, essv6558627, essv5514613, essv5551888, essv6171367, essv5906471, essv5833359, essv6308304, essv6493911, essv5657153, essv6208086, essv5681114, essv5702709, essv6338816, essv6059241, essv6480860, essv5756023, essv6486551, essv6505007, essv6148132, essv5467786, essv5687031, essv6463609, essv5536434, essv5716858, essv6473350, essv5505730, essv6372344, essv6057097, essv5574785, essv6173111, essv5661817, essv6308279, essv6556038, essv6304430, essv6429387, essv6022907, essv5408730, essv6177404, essv6261397, essv5531302, essv5532675, essv5595149, essv5710086, essv6569288, essv6592906, essv6331357, essv6453358, essv6084903, essv6160050, essv5881796, essv6121146, essv6498666, essv5853557, essv6258840, essv5984208, essv6010037, essv6148544, essv6531593, essv5575645, essv5736214, essv5752173, essv5972198, essv6598207, essv5454069, essv6315602, essv5781536, essv5581976, essv5616502, essv6545792, essv5901138, essv6412109, essv5856886, essv5860112, essv6490090, essv5451324, essv5642096, essv5782760, essv5725653, essv5783758, essv5533290, essv5611646, essv5704188, essv6289537, essv6335265, essv5423415, essv6089489, essv6315246, essv6377875, essv6534294, essv5640318, essv5803571, essv5464568, essv6303137, essv6543613, essv6263156, essv5736598, essv5562570, essv5716196, essv6347592, essv5788859, essv6174634, essv5975676, essv6301231, essv5613472, essv5477865, essv6212556, essv5911799, essv6103463, essv5706586, essv6369479, essv5901282, essv6061981, essv6150721, essv5809051, essv5569194, essv5895492, essv6314321, essv6081566, essv6125958, essv6553820, essv5508802, essv5802070, essv6012073, essv5737743, essv6495783, essv5871929, essv6594916, essv5932833, essv6032133, essv5956007, essv6201436, essv5701412, essv6138719, essv6564714, essv5733020, essv5501910, essv5988492, essv5920369
SamplesHG00613, HG01441, HG00380, NA19248, NA19312, HG00537, HG01440, NA20787, HG00257, NA18520, NA18595, NA20771, HG00182, NA19904, HG01353, NA18530, NA18535, NA18630, HG00418, NA12286, NA19081, NA19819, NA12342, HG00328, NA19437, NA19114, HG00705, NA11920, HG00171, NA20510, HG00112, HG00186, NA12347, NA20796, NA18526, NA20531, HG00160, NA11918, NA19435, HG01389, NA20296, NA20759, HG00463, HG01197, HG00657, NA19359, NA19334, NA19788, NA19331, NA19453, NA20800, NA18953, HG00428, HG01174, HG00368, HG00148, NA19920, HG01350, HG00739, NA18489, NA19379, NA12058, NA18507, HG00698, NA18963, HG00187, NA07051, NA19651, HG00280, HG01101, HG01134, NA19682, NA19701, NA18557, NA20755, NA20521, NA20803, NA18625, NA18868, HG00269, HG01107, NA19062, NA19463, HG00158, NA20505, NA19085, HG01384, NA18627, NA19390, HG00308, NA18635, NA20811, NA19443, NA19471, HG01048, NA19107, NA19444, HG01061, NA18617, HG01124, NA19088, NA20127, HG00315, NA19429, HG00149, NA18959, HG00533, NA11843, HG01253, HG00174, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, HG00343, NA19082, NA19728, NA19000, NA19055, HG00306, NA19247, NA19360, NA19313, NA19380, HG01111, NA19786, NA19080, NA07346, HG01465, NA19189, NA20291, HG01191, NA19374, HG00640, NA20760, NA12778, NA12348, NA20795, NA18986, NA19102, NA19005, NA19002, NA19664, HG00672, HG01170, HG00249, NA11892, NA18961, HG00103, HG01351, NA20815, HG01494, NA20542, NA20766, NA12283, NA18910, HG01383, NA20813, NA19777, HG00120, NA18940, NA18987, HG00427, NA19376, NA19729, HG01095, NA19391, NA19078, NA20276, NA20799, HG00650, NA06984, NA18867, NA19394, NA12413, NA18565, NA19009, NA12889, NA19431, NA18989, NA19747, NA20287, HG00118, HG00311, HG00448, NA18602, NA19755, NA19818, HG00608, NA18577, NA19446, HG01390, NA19452, NA20507, NA20513, NA18533, NA18548, NA20317, NA11830, NA19064, NA19770, NA20810, HG00123, HG01464, HG00285, NA19063, NA18917, NA20812, NA12546, NA12842, HG00142, HG01366, NA18499, NA19371, HG00708, HG01108, NA18610, NA20758, HG01251, NA19470, HG00367, NA18984, NA19315, NA20792, HG00693, NA11932, HG01125, NA19756, HG01177, NA19346, NA20768, HG00320, HG01498, HG00324, HG00690, NA20528, HG00641, NA18574, HG00183, HG00442, HG01374, NA19350, HG01102, HG01462, NA18908, NA20524, NA20804, NA20806, HG00336, NA19448, NA20502, NA19087, NA20772, NA19092, NA19468, NA20538, HG00702, HG00704, NA18555, NA19385, HG00271, HG00278, NA19007, NA18519, NA19065, HG00126, NA12775, NA19466, NA19746, HG01067, HG01354, HG00312, HG00361, HG01198, NA18964, NA12718, HG00313, NA19445, NA19625, HG00152, HG00734, HG00607, NA11930, NA20522, NA20809, HG01250, NA20526, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18933, NA19404, HG01055, NA07056, NA18874, HG01342, NA20516, HG00369, NA19783, HG00736, NA19060, HG00310, NA18550, NA19072, NA19455, NA20802, NA20775, NA19317, NA20808, HG01492, NA19451, NA20816, NA19010, NA18573, NA20786, HG00270, HG00553, HG00190, HG00106, NA19834, NA20588, HG01461, NA20314, NA19004, NA19678, HG00557, HG00366, HG00578, NA11893, HG00146, NA18488, NA19355, NA19084, NA19467, NA18873, HG00188, NA19776, NA20586, HG01133, NA20770, HG00266, HG00115, HG01254, NA18559, NA20761, NA19067, NA19428, NA19383, NA19982, NA20533, HG00250, NA19054, NA19059, NA20819, NA12282, NA12383, NA11994, NA19068, HG00638, NA19900, NA20757, HG00231, NA20783, NA18991, NA20807, HG00330, NA07048, NA19398, NA19440, NA11933, NA20541, NA19774, NA20765, HG00178, NA12829, NA19256, HG01136, NA20282, NA20336, NA19658, HG00637, NA18982, NA19681, NA19056, HG00403, NA12830, HG00357, HG00584, HG00133, NA20773, HG00114, HG00436, HG00159, HG00620, NA19377, HG00124, NA12046, NA18537, NA19172, NA19759, NA20536, HG00268, HG01066, NA20126, NA18923, NA18486, HG00559, NA06986, NA18522, HG01455, HG00147, NA19657, NA19713, NA19731, NA20540, HG01073, NA18977, NA20814, HG00478, NA18487, NA18942, HG00116, NA20774, NA20828, NA19332, NA19909, HG00513, NA20582, NA18988, HG00329, HG01070, HG00246, NA19074, HG01060, NA19382, NA19318, NA18985, NA19462, NA18945, NA18606, NA18543, HG00151, NA18999, NA20581, NA20537, HG00595, NA18983, HG00443, NA18599, NA18567
Known GenesPARD6G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663498
Frequency
Sample Size1151
Observed Gain0
Observed Loss455
Observed Complex0
Frequencyn/a


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