A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675927



Internal ID9595346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41277776..41278782hg38UCSC Ensembl
Outerchr20:41277355..41279252hg38UCSC Ensembl
Innerchr20:39906416..39907422hg19UCSC Ensembl
Outerchr20:39905995..39907892hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv786e199
Supporting Variantsessv6103408, essv6327807, essv5794342, essv5653410, essv5913898, essv6259896, essv6315303, essv6129854, essv6375620, essv6113779, essv6242117, essv6377438, essv5659675, essv5763123, essv5922021, essv6100403, essv5890946, essv6253530, essv5741210, essv6008320, essv5815109, essv5458411, essv6356510, essv5655992, essv5552238, essv6302392, essv6581766, essv5710596, essv6309050, essv5587326, essv6012069, essv5796009, essv5920654, essv6464383, essv5872754, essv5511815, essv5792182, essv5469411, essv5497896, essv6441501, essv6276641, essv5802285, essv6411406, essv5590183, essv5823291, essv5685985, essv6405012, essv5716954, essv6423286, essv5903755, essv5496756, essv6565836, essv5862855, essv5631840, essv6247730, essv6590834, essv6291950, essv6519352, essv5983180, essv6380747, essv6045881, essv5492906, essv6558974, essv6432867, essv6309550, essv6433733, essv5952543, essv6522131, essv5832360, essv5453195, essv6586592, essv5592326, essv5645936, essv6239775, essv5419640, essv6306904, essv5466358, essv5916087, essv6496409, essv5909545, essv6113566, essv6458743, essv6360130, essv5456745, essv6440075, essv6507166, essv6210703, essv6141275, essv5480629, essv5979449, essv5530793, essv6467180, essv5669233, essv5760581, essv5423191, essv5566765, essv6567058, essv6536844, essv6119946, essv5500004, essv5559982, essv6407542, essv6216829, essv6550502, essv6301274, essv5660139, essv6541598, essv5578422, essv5522319, essv6254778, essv6208577, essv5490265, essv6173990, essv5420916, essv6472861, essv6388171, essv6596608, essv6313908, essv5803917, essv6336174, essv5761509, essv5916909, essv5508319, essv5684346, essv6436547, essv5564439, essv6332653, essv6571011, essv5456359, essv5859375, essv5716250, essv6561385, essv6538533, essv6095504, essv6421377, essv5847803, essv5757539, essv5542175, essv5767805, essv6110512, essv6578750, essv6547308, essv5812788, essv5677936, essv6000928, essv5601348, essv6539617, essv6259447, essv5670025, essv6171784, essv6073782, essv5829454, essv6503450, essv6236165, essv5677613, essv5864589, essv6015490, essv6426703, essv5473409, essv5613512, essv6506518, essv5921077, essv5861778, essv5861290, essv6334853, essv5540720, essv6562706, essv6536502, essv5875657, essv6038294, essv5785233, essv6430419, essv5919602, essv6156153, essv6272978, essv6520912, essv6492822, essv5764366, essv6435886, essv6126312, essv5943840, essv5422911, essv5908387, essv6121610, essv5441374, essv5410870, essv6097509, essv5857056, essv5593151, essv5862327, essv5787904, essv5579417, essv5790032, essv6351926, essv5665730, essv6586222, essv6174858, essv6529064, essv6507502, essv5858839, essv6217624, essv6598092, essv6094224, essv6389359, essv5585320, essv5556427, essv5993307, essv6433952, essv5745934, essv6535035, essv6206931, essv5762774, essv5950522, essv6225236, essv6557611, essv6400013, essv5960366, essv6220397, essv5617341, essv5426366, essv5687196, essv6507666, essv6552409, essv5562096, essv6047587, essv6555175, essv5847887, essv6360540, essv5792753, essv6426047, essv6394499, essv5844424, essv6052567, essv6064036, essv6357633, essv6240252, essv5725237, essv6004678, essv6232994, essv5539125, essv6166057, essv5921779, essv6178997, essv5636902, essv6013502, essv6587048, essv6168204, essv6560999, essv5451943, essv5923701, essv5476006, essv6504467, essv5899068, essv5483281, essv5421821, essv5681942, essv5760855, essv5544676, essv6595133, essv6254445, essv6459454, essv5730536, essv6396690, essv5995711, essv5750837, essv6182357, essv5732413, essv6439151, essv5572323, essv6479243, essv5865696, essv6327558, essv5396556, essv5834746, essv6217170, essv5446074, essv5459464, essv6073949, essv6258102, essv5946483, essv5767189, essv5766362, essv5612939, essv6481596, essv6312590, essv5567048, essv5918611, essv5695573, essv5461215
SamplesHG00189, HG00542, HG00442, NA19058, HG00143, NA19703, NA18621, HG00142, NA20766, NA18947, NA19664, HG00242, NA18565, HG00151, NA18999, NA20802, NA19350, NA19359, NA12340, NA19377, NA18616, HG00449, HG00654, NA19443, NA18633, HG00261, NA12399, NA18602, NA19446, HG00138, NA19373, NA19379, NA18940, HG00589, NA19319, HG00122, NA18597, NA19678, NA18618, NA19062, NA18574, HG01083, HG01365, NA19384, HG00537, HG00243, HG00512, HG00139, HG01069, NA18868, NA19372, HG00534, HG00705, HG00160, NA18990, NA18985, NA20757, NA18867, HG01550, NA18539, HG01124, HG00137, NA18951, HG00443, HG01171, NA19403, HG00557, HG01095, NA20760, NA19717, HG00583, NA19081, HG00275, NA12718, NA18948, NA18534, HG00239, NA18981, HG00692, NA19064, HG00740, HG01047, HG00324, HG00284, HG00651, HG00690, HG00404, HG00531, HG00684, NA19453, NA18532, HG00140, HG01497, HG00152, HG00146, NA18963, NA19682, NA19395, NA19625, NA12546, HG01107, NA19012, HG01148, NA19375, HG00611, NA19390, HG00625, NA19434, NA19747, HG00580, HG01551, NA19444, HG01375, HG00473, NA19679, NA19311, HG01113, NA19083, NA18615, HG01342, HG00478, NA18631, NA19779, HG00267, NA18636, HG00310, NA18873, HG00280, NA20758, NA19080, NA19711, NA18983, HG00595, NA19430, NA18989, NA19316, NA19312, HG00628, NA19463, NA18623, NA19063, NA19346, NA19074, HG01437, HG00581, NA19431, NA18620, HG00593, HG00626, HG01060, HG01441, NA19700, HG00536, NA18924, NA19466, HG00361, NA18592, HG00524, NA19914, HG01052, NA19332, HG01079, NA19704, HG01188, NA18599, HG01374, HG00318, HG01465, NA19819, NA19393, NA19057, NA12155, HG01140, HG00327, NA18967, NA19068, NA19396, NA19660, NA19005, NA18944, HG01366, HG00501, NA19448, NA18595, HG00702, NA18635, NA18619, HG00634, HG00610, HG00346, HG01354, HG00369, NA18964, HG01134, HG00277, NA06984, HG01072, NA20340, NA19385, NA19471, NA18986, HG01440, HG00427, HG00338, HG00159, NA19445, NA18975, HG00178, HG00530, NA19451, NA18638, HG01353, HG01183, HG01136, NA18544, HG00629, NA19437, HG01360, HG00183, NA19082, NA19707, NA19077, HG00428, NA19347, HG00653, HG00577, NA18956, NA19391, NA19327, HG00475, NA19982, HG00584, HG00500, HG00708, NA19000, NA18499, NA20538, HG01383, HG00613, HG00321, NA19675, NA19436, NA19685, NA18961, NA12775, HG00565, HG00366, NA18950, HG01253, NA18941, HG00278, NA20785, NA19334, HG00607, NA19439, NA19467, HG01108, NA07037, HG00256, NA19085, HG00269, HG00125, NA20341, NA19818, NA19376, NA19398, HG00578, HG00312, NA19472, HG00421, NA18987, HG00656, HG00698, HG00131, NA19213, NA18972, HG00372, NA19661, HG01377, HG00472, NA07056, HG01378, NA19004, HG00554, HG01191, HG00180, HG00437, NA18562, NA18965
Known GenesZHX3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675927
Frequency
Sample Size1151
Observed Gain0
Observed Loss289
Observed Complex0
Frequencyn/a


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