A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675548



Internal ID9941653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:28693302..28698308hg38UCSC Ensembl
Outerchr18:28692781..28698728hg38UCSC Ensembl
Innerchr18:26273266..26278272hg19UCSC Ensembl
Outerchr18:26272745..26278692hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5899021, essv6209906, essv5456893, essv6588506, essv5398584, essv6404530, essv6268302, essv6058269, essv5969570, essv6498462, essv5616641, essv6117844, essv5890575, essv5861306, essv5450604, essv5460126, essv5734457, essv5455636, essv6446469, essv5830652, essv5485343, essv5846197, essv6590594, essv6454014, essv6384529, essv6216749, essv5802513, essv5730331, essv6011589, essv6534542, essv5709863, essv5571997, essv5442780, essv5583349, essv6587487, essv5695686, essv5428826, essv6401649, essv5801508, essv5813555, essv5662982, essv6522861, essv5543211, essv5760352, essv6015572, essv5864268, essv5942093, essv5506466, essv6231798, essv6230915, essv5834110, essv5658366, essv6480575, essv6338127, essv6366564, essv6288164, essv5648518, essv6579195, essv6339467, essv5668715, essv5556504, essv6272835, essv6075501, essv5688062, essv6431155, essv6120759, essv5707057, essv5954432, essv6463384, essv6332748, essv6147027, essv6166047, essv5488422, essv5824057, essv6120772, essv6395084, essv6350042, essv6588856, essv6295852, essv6411888, essv6281980, essv6261953, essv5946412, essv6490886, essv5978343, essv6291105, essv5769326, essv5827023, essv5595410, essv5452813, essv6155527, essv5511532, essv5991550, essv6070775, essv6557855, essv5662580, essv6406853, essv6440755, essv6255350, essv5632452, essv5482186, essv6577915, essv5703765, essv6513518, essv6331237, essv5481078, essv5812517, essv5480015, essv5666123, essv5762222, essv5430902, essv5919491, essv6371161, essv6033181, essv5808110, essv6500720, essv5931666, essv6016029, essv6287875, essv5996053, essv5515761, essv5741361, essv5878804, essv5572724, essv5404386, essv6262032, essv6475268, essv6488953, essv6286174, essv6582071, essv6266817, essv6382697, essv5845377, essv6418323, essv6179817, essv5804392, essv6259104, essv5915961, essv6038773, essv6221303, essv6398681, essv5971883, essv5776324, essv6323087, essv5832965, essv6528872, essv5420210, essv6574068, essv6067686, essv5713307, essv5529230, essv6431870, essv5766492, essv6395194, essv6419231, essv5533969, essv6010550, essv6015248, essv6496509, essv6211552, essv6050671, essv5751922, essv6504561, essv6514410, essv5643417, essv5952708, essv5835704, essv5865009, essv5640007, essv6480443, essv6359566, essv6307704, essv6183511, essv6472096, essv5873686, essv6161937, essv5944207, essv6539647, essv5978964, essv6318198, essv6132660, essv5772408, essv5949389, essv5727243, essv5536702, essv6455268, essv6317889, essv6205009, essv5793955, essv6328116, essv6416687, essv5558142, essv5711315, essv6167985, essv5753819, essv5717650, essv5678530, essv5846865, essv5683696, essv6453837, essv6372476, essv5727426, essv6582379, essv6578403, essv6495742, essv5600469, essv6101358, essv5689725, essv6130347, essv5571859, essv5983519, essv6088658, essv6163155, essv5766263, essv6534536, essv6519765, essv5981618, essv5552348, essv5403834, essv6109628, essv5902693, essv5682139, essv5836636, essv6417638, essv5573760, essv6349344, essv6452842, essv5950223, essv6546544, essv6051340, essv5420756, essv5835414, essv5588259, essv6450180, essv6061441, essv6000712, essv5988312, essv6459456, essv5645490, essv5431469, essv5899417, essv6229401, essv5427522, essv6157397, essv5746690, essv5951979, essv5636021, essv5969149, essv5707854, essv6396867, essv6067700, essv5673269, essv6391698, essv6225505, essv5873688, essv5568883, essv5571768, essv5671450, essv6587202, essv5531699, essv6368358, essv6121829, essv6305162, essv6193677, essv5896270, essv6305114, essv6114823, essv6072279, essv5783055, essv5665708, essv5700978, essv6201897, essv6556111, essv5630474, essv5922122, essv5768141, essv5852899, essv5828655, essv5589168, essv5998841, essv6180407, essv6288078, essv6489523, essv5753217, essv5753089, essv5974588, essv5757977, essv5670453, essv6108203, essv5425950, essv5725267, essv6159289, essv6019418, essv5893588
SamplesHG00650, HG00542, HG00442, HG01173, NA19058, NA12842, HG01462, HG00608, NA20766, NA18947, HG00671, NA19066, NA18508, HG00559, HG01066, HG00151, NA18999, NA18959, NA18616, HG01518, HG00449, HG01461, HG00654, NA20356, NA20771, NA19067, HG00337, NA07346, NA18940, HG00589, NA18597, NA19678, HG01167, NA20756, NA19062, HG01083, HG01365, HG00334, NA19904, NA19384, HG00537, HG00243, HG01080, NA20518, HG00148, HG00325, HG00534, NA19722, NA18557, NA18985, HG01133, HG00323, HG01550, HG00253, NA19921, HG00137, NA18951, HG00443, HG00266, HG01171, HG00282, NA19070, NA19056, HG00557, NA19717, NA19663, HG01498, HG01149, NA18948, HG00692, NA19064, NA19654, HG00324, HG00651, HG00250, NA18626, HG00690, HG00404, HG00531, HG00684, NA18553, HG01497, NA19059, NA19009, NA18555, NA19682, NA18523, HG00463, NA19395, HG00126, NA19012, NA19003, NA19729, HG00611, NA19652, NA19440, HG00254, HG00625, HG00580, NA19010, HG01357, HG01174, NA19679, NA19083, NA18943, NA19783, HG00662, HG00418, NA18615, NA18610, HG01489, HG01342, HG00339, HG00614, HG00478, NA19785, NA18631, HG00342, NA19716, NA18636, NA19770, NA19780, NA18989, NA18624, NA18623, NA18612, NA20754, NA19346, NA19074, HG01437, HG00553, NA19676, HG00593, HG00403, HG01060, HG01441, NA19648, HG00592, NA19055, HG00536, NA19397, HG00524, HG01079, NA11933, NA18599, HG01374, HG01465, HG00699, NA19819, NA19393, NA12004, NA19777, NA18596, HG01456, NA18606, HG00179, HG00177, NA12400, HG00327, NA18967, NA19746, NA19660, NA19076, NA19005, NA18944, HG01070, HG00251, NA19728, NA18595, HG00702, HG00689, HG00448, HG00173, NA18635, NA18942, HG00610, HG01354, NA19771, NA12287, NA19782, NA19681, NA18964, HG00590, HG01134, HG00277, HG01455, NA19651, HG01067, HG00683, NA18874, HG01495, NA19719, NA19731, NA19075, NA19087, HG00182, NA19002, HG00427, NA19725, NA19189, NA18975, NA18908, NA18973, HG00419, HG00464, NA19007, NA11831, HG01353, HG00543, HG00313, HG01136, HG00560, NA18613, HG00629, NA19657, NA19077, NA19462, HG00653, NA18956, HG00475, HG00584, HG00533, HG00500, NA19788, NA19776, HG00708, NA18566, HG01073, HG00273, NA19774, NA19449, NA19655, HG01197, HG00613, HG00525, NA12827, NA20282, NA19257, HG00276, NA19756, NA18536, NA19675, NA18945, NA19436, NA18576, NA19685, NA19401, HG00476, HG00285, NA18961, NA18952, NA18543, NA18559, NA19749, HG00565, NA18950, NA19732, HG01253, HG00136, NA18941, HG00278, NA19773, HG00607, NA20516, HG01108, NA19085, NA19759, NA19398, NA19078, HG00707, HG00672, NA19060, HG00421, HG00656, HG00186, NA20807, HG00698, NA19726, NA19213, NA18972, HG00343, HG01251, HG00252, HG00472, HG01378, NA19755, NA19004, HG01082, HG00554, NA18549, HG01191, HG01061, HG00437, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675548
Frequency
Sample Size1151
Observed Gain0
Observed Loss294
Observed Complex0
Frequencyn/a


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