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 Variantsessv6119643, essv5701412, essv5845188, essv5616502, essv6553820, essv6478687, essv5704188, essv5788859, essv5630746, essv6301746, essv6160950, essv6148544, essv5462845, essv6059241, essv5625601, essv6186523, essv5569194, essv5918663, essv5598532, essv6460943, essv5533290, essv5437386, essv6367079, essv5948098, essv5454362, essv5910762, essv6455606, essv6529046, essv5505962, essv6405988, essv6561430, essv6462828, essv6116517, essv6534294, essv5772773, essv5789135, essv6289812, essv5414507, essv5812971, essv5687031, essv6474212, essv6390129, essv6535740, essv6315246, essv5962395, essv6119522, essv6012073, essv5995825, essv6300921, essv6531593, essv5532675, essv5968711, essv6397071, essv6338816, essv5962678, essv6508564, essv6533330, essv6013458, essv5733020, essv6331357, essv6391652, essv5575959, essv6142932, essv5505730, essv5937149, essv5611646, essv5612811, essv6271919, essv6075295, essv5984208, essv6304430, essv5514613, essv6543613, essv6246351, essv6568634, essv6301231, essv6121146, essv6050873, essv6436267, essv5972198, essv6263085, essv5510550, essv5631025, essv6022907, essv5604673, essv6511674, essv5975208, essv6272767, essv6153684, essv5531302, essv6471757, essv6269108, essv6142927, essv5642096, essv6441355, essv5842333, essv6176269, essv6035552, essv6278022, essv5476393, essv6129285, essv5574785, essv5847651, essv6089489, essv6435719, essv5498245, essv6502224, essv5685842, essv6530469, essv6021835, essv6352151, essv6543243, essv5426028, essv5904801, essv6064077, essv5716858, essv6129218, essv6061981, essv6435881, essv6102805, essv5818843, essv5797112, essv5744860, essv5702709, essv6211541, essv6562690, essv6484422, essv6507560, essv6173111, essv6308304, essv5975676, essv6050048, essv5901438, essv5853557, essv5712723, essv5508802, essv6159784, essv6010037, essv5755268, essv6125958, essv5752173, essv6057097, essv6582986, essv5895492, essv6303137, essv5829875, essv5544373, essv6409683, essv5856854, essv6307065, essv5970418, essv5456144, essv5736214, essv5681130, essv6569058, essv5615010, essv5681603, essv6479957, essv5993501, essv5530335, essv5453189, essv5598746, essv6235780, essv5936209, essv5920369, essv5535061, essv6486551, essv5974253, essv5969806, essv5741296, essv5901138, essv6426511, essv5562570, essv6419930, essv5973127, essv6171961, essv6148132, essv6347592, essv5423415, essv5681114, essv5464568, essv6412109, essv5798826, essv5573413, essv5781536, essv6327629, essv6420324, essv5856886, essv5998215, essv5783758, essv6490518, essv5805862, essv5467786, essv6501919, essv6212556, essv5604422, essv6249972, essv5814386, essv5780458, essv5742918, essv6177404, essv5864576, essv5833359, essv5923389, essv5502410, essv6492593, essv5420781, essv5441689, essv6334925, essv6129051, essv6386675, essv6392208, essv5661817, essv6513939, essv6443828, essv5822789, essv5399567, essv5667202, essv6518610, essv5451962, essv6556546, essv6171367, essv5782760, essv6406262, essv5560742, essv6416239, essv6545792, essv6095512, essv5932833, essv6150721, essv5468695, essv5473369, essv6453358, essv5854257, essv5890504, essv5712649, essv6261397, essv5901282, essv6556633, essv6387104, essv6074619, essv5408730, essv5649175, essv5399831, essv5831917, essv6434830, essv6084903, essv5904965, essv6383448, essv6345571, essv6569288, essv6103463, essv6221648, essv5809051, essv5672067, essv6431823, essv5863272, essv5412377, essv5593532, essv5548212, essv6289590, essv6188642, essv5915781, essv5520853, essv5485453, essv6298647, essv5601315, essv5915710, essv5737743, essv6558658, essv6359249, essv6343610, essv5536434, essv5737865, essv6463609, essv6367448, essv6201436, essv5593311, essv5613472, essv6535419, essv6409988, essv6491400, essv6258840, essv6375092, essv6379433, essv5803571, essv5424697, essv6556038, essv5847147, essv5532843, essv5574809, essv5595149, essv6506601, essv6335265, essv6174344, essv5454537, essv5463708, essv5501910, essv6598207, essv6594113, essv5874442, essv6440777, essv5987362, essv5657153, essv5848278, essv5756023, essv5697935, essv5710471, essv6474255, essv6240221, essv6014384, essv6162319, essv6138719, essv5800651, essv6472914, essv5487966, essv6263156, essv5545024, essv5871929, essv6160050, essv5551888, essv6501448, essv5632321, essv6132887, essv6192897, essv5581976, essv5716196, essv5477865, essv6314321, essv5706586, essv5450227, essv5658684, essv5442779, essv5796046, essv6592906, essv6362085, essv6516697, essv6180547, essv6484784, essv5906471, essv6150650, essv6208086, essv6220710, essv5920019, essv6119037, essv6250405, essv5802070, essv6384038, essv6029000, essv6495564, essv5792160, essv6236879, essv5725619, essv5851588, essv6303775, essv6376353, essv5593362, essv5775090, essv5566741, essv5454069, essv5680185, essv6478825, essv5621220, essv5575645, essv5860112, essv6056630, essv6372344, essv6196557, essv5957963, essv5792641, essv6279326, essv5640318, essv6369479, essv5797815, essv5823145, essv5838740, essv5742757, essv5827363, essv6564714, essv6085687, essv5736598, essv5720763, essv6037924, essv6556542, essv6449741, essv6393320, essv6572507, essv5627023, essv6215780, essv6429387, essv6150605, essv6495783, essv6372343, essv6308279, essv6480860, essv6558627, essv6174634, essv5451324, essv6490090, essv5725653, essv6594916, essv5879978, essv6596137, essv6430950, essv6032133, essv6018176, essv5987110, essv5911799, essv6339408, essv5956007, essv6498666, essv6108829, essv5402966, essv6014469, essv5881796, essv6315602, essv6446490, essv6244495, essv5513215, essv6023273, essv6289537, essv5810352, essv5645410, essv5496021, essv5798841, essv6493911, essv6449521, essv6473350, essv6066341, essv6377875, essv5988492, essv6072062, essv5710086, essv6505007, essv5920404, essv6078496, essv5961962, essv6164737, essv6386528, essv6134607, essv5884258, essv5925581, essv5542138, essv5598278, essv5906639, essv6448807, essv6081566, essv6332189, essv5789016, essv5718295, essv6507868, essv5654051, essv6269274, essv5673357, essv6573769
SamplesNA20588, NA19394, NA12383, NA19701, NA20761, HG00650, HG00442, NA12842, HG01462, HG00608, NA19909, HG00142, NA20766, NA12286, NA19664, HG00559, NA20783, NA18565, NA11920, HG00257, HG01066, HG00315, HG00151, NA20816, NA18999, NA20802, NA19350, NA19359, NA19355, NA19377, NA18530, NA18959, HG00115, HG01461, NA19443, NA19920, NA20771, NA20806, NA19067, NA18602, HG00693, NA18988, NA18627, HG00271, NA19107, NA20814, NA19446, NA07346, HG00641, HG01350, NA19379, NA18940, NA18519, NA19315, HG01351, HG01177, NA19678, NA20774, NA18923, NA18567, NA20795, HG01492, NA19062, NA18574, NA07048, NA11918, NA20768, NA19457, NA20287, NA19904, HG00537, HG00311, NA20291, HG00158, NA11930, NA20759, HG00148, NA20775, NA20812, NA18868, NA11932, NA11994, NA19172, HG00705, HG00160, HG00118, HG01198, NA18557, HG01048, NA18985, HG01133, NA20757, NA20127, NA18867, NA20755, HG01124, NA12777, NA20800, HG00443, HG00268, HG00266, HG00380, NA19056, HG00557, NA18933, NA20521, HG01095, HG00657, NA20810, NA20760, HG00368, NA19455, NA20314, HG00344, NA19081, HG01498, NA12718, NA19064, NA18548, NA18537, HG01102, HG00324, HG00284, NA18573, HG00250, NA19084, HG00690, NA20581, NA12829, NA11893, NA19453, HG01101, NA19059, NA19009, NA18555, HG00152, HG00146, NA19452, NA18963, HG00704, NA19682, HG00463, NA19318, NA12778, HG00246, HG00126, NA19625, NA12546, HG01107, HG01075, NA18953, NA20799, NA19729, NA19440, NA18533, NA19390, HG00336, NA19256, NA20276, NA19747, NA20815, NA19072, HG00734, NA19444, NA19331, NA19010, HG01174, NA20792, NA19470, NA19428, HG00116, NA19360, NA19783, HG00418, NA18610, HG01342, NA12347, HG00620, HG00513, HG00478, NA19468, NA20510, HG00310, NA20786, NA19102, NA18873, HG00112, NA19770, HG00280, NA11843, NA20758, NA19080, NA19900, NA18983, HG00595, NA20502, HG00147, NA18989, NA11892, HG01111, NA19312, HG01125, HG00171, NA19463, NA19063, NA19065, NA19429, NA19346, NA19074, NA18487, HG00553, NA19431, NA18577, NA20772, HG00403, HG01060, HG00114, HG01441, NA11830, NA19700, NA19055, HG00231, HG00249, NA19466, HG00361, HG01052, HG00187, NA19332, HG00100, NA18507, NA20531, NA11933, NA18599, HG01389, HG01374, HG00306, NA20813, NA18917, HG00640, HG00367, NA19092, NA18486, HG01465, HG00103, NA19819, NA19777, NA18625, NA12058, NA18606, NA20808, NA20507, NA18526, NA12413, NA20537, NA19374, NA19068, HG01250, NA19746, NA20796, NA19005, NA18550, HG01366, HG01070, NA19382, NA18489, NA19728, NA19448, NA18595, HG00702, HG00448, NA20586, NA18982, NA18635, NA20317, HG00330, NA12348, NA18942, HG00736, NA12283, HG01354, NA20540, NA19313, NA19088, NA19054, HG00369, HG00270, NA20513, NA19681, NA20336, NA18964, NA20541, NA19404, HG01134, NA12282, HG01455, NA19651, HG01067, HG00120, NA19383, NA18874, HG00106, NA20819, NA06984, HG01170, NA18977, HG01072, NA19371, NA19731, NA18617, NA19385, NA19471, NA19317, NA18986, NA19087, NA12889, HG01440, HG00182, NA19002, HG00427, NA20811, NA19189, NA18520, HG00637, HG00159, NA19445, HG00178, NA20533, NA18908, NA19451, HG00739, NA19007, HG01353, HG00313, HG00133, HG01136, HG00188, HG00149, NA19247, NA19657, NA19437, HG00183, NA19082, HG01187, NA20787, NA20524, HG01384, HG00328, NA12342, NA20505, HG00428, NA19462, HG00190, NA20809, NA20536, NA19391, NA18991, HG00436, NA19982, HG00320, HG00584, HG00533, NA19788, NA20126, NA19658, NA18910, NA20770, NA18630, NA19776, HG00708, HG01390, HG01073, NA19114, NA19774, NA19000, HG01197, NA18499, NA20538, HG01383, HG00613, NA20282, HG00276, NA20828, NA19756, NA20542, NA18945, NA20765, NA20526, NA20296, HG00124, NA20773, NA20522, NA18535, HG00285, NA19834, NA18961, NA18543, NA18559, NA12775, HG00366, HG00357, HG01253, NA19435, HG00638, NA20804, HG00278, NA19380, NA07051, NA20785, NA12046, HG00308, NA19334, HG01494, HG00607, NA19786, NA19467, NA20516, HG01108, NA20803, NA19085, NA06986, HG00269, NA19818, NA19759, NA19376, NA19398, NA19078, HG00672, HG00578, NA19248, HG00312, NA20582, NA19060, HG00329, NA18987, NA19713, HG01254, HG01055, HG00174, HG00123, NA12830, HG00186, NA20807, HG00698, HG00343, NA20528, HG01251, NA18984, NA07056, HG01464, NA19755, NA19004, NA18488, NA18522, HG01191, HG01061
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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