A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673959



Internal ID9940064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640313..9643446hg38UCSC Ensembl
chr8:9497823..9500956hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383134
hg193134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6341640, essv5592220, essv6513510, essv6244591, essv5568676, essv6392947, essv5558804, essv6304280, essv5453326, essv6336137, essv6572411, essv6408833, essv6359446, essv5679021, essv5575301, essv6402121, essv5610383, essv5792469, essv5905789, essv5990185, essv6456636, essv5686036, essv6030620, essv5704166, essv6342993, essv5552527, essv6302121, essv6338137, essv5497722, essv5846360, essv5491838, essv5789557, essv6490050, essv5808979, essv6434480, essv6463246, essv6298434, essv6484981, essv5993128, essv6383183, essv5638590, essv6572938, essv6215350, essv6589031, essv6370037, essv5695873, essv5622723, essv6213941, essv5817614, essv5900555, essv6386179, essv6408886, essv6489636, essv5627071, essv5433632, essv5484188, essv6289343, essv5402790, essv5728502, essv5986049, essv5409248, essv5660367, essv6342128, essv5508382, essv6579304, essv5951422, essv6229154, essv5563621, essv5406588, essv5646844, essv6540738, essv6408762, essv5406865, essv5569972, essv5840415, essv5597346, essv6515188, essv5657491, essv6466416, essv5929566, essv6217894, essv6464214, essv6566831, essv6390701, essv5425565, essv6189255, essv5713524, essv6195956, essv5509402, essv5649692, essv5475717, essv5679806, essv5857736, essv5583409, essv6020804, essv6446776, essv5577451, essv5399346, essv5858294, essv5863498, essv6179792, essv6298383, essv6076868, essv5992650, essv5449341, essv5699884, essv6054913, essv6343873, essv5413191, essv6114334, essv6037324, essv6056500, essv5859766, essv5452699, essv6071951, essv6474489, essv5401548, essv6274160, essv6204797, essv6023113, essv5647295, essv6247192, essv5530623, essv6210694, essv5773043, essv6047043, essv6587464, essv6141959, essv6290134, essv5812798, essv6048807, essv5496441, essv6066469, essv6451740, essv5771867, essv5927182, essv6029724, essv5623374, essv5632838, essv5884067, essv6054778, essv5524772, essv5649122, essv5649080, essv6164657, essv6406871, essv5834628, essv5618391, essv6188336, essv6340451, essv5597277, essv5592838, essv5660793, essv5629191, essv5774976, essv6538954, essv5809516, essv5453277, essv6462303, essv5674082, essv5585558, essv6183814, essv5521789, essv5727731, essv5744415, essv5916145, essv5993457, essv5578188, essv5403454, essv5846350, essv6249847, essv5418891, essv6459021, essv6075640, essv5649554, essv6034741, essv6015920, essv6300547, essv6344028, essv5553571, essv6109998, essv6431930, essv6393103, essv5615823, essv5466095, essv5473933, essv5874903, essv5659782, essv6351921, essv6374130, essv5413317, essv5957714, essv5500028, essv6409174, essv5397260, essv6203757, essv6154736, essv5610870, essv6193954, essv6254732, essv6395031, essv5971576, essv5665321, essv5464992, essv5935093, essv5668426, essv5538016, essv6415506, essv6015845, essv5531962, essv6233993, essv5889566, essv5837872, essv5979634, essv6388973, essv5428196, essv5646607, essv6557687, essv6174813, essv5543267, essv5674881, essv6546023, essv6109137, essv5814986, essv5851549, essv6113305, essv6577723, essv5864724, essv6278551, essv5417087, essv6373600, essv6478274, essv5511802, essv6018152, essv6075001, essv5618527, essv5859959, essv6192755, essv5653241, essv5518589, essv5857927, essv5730530, essv6546688, essv5421819, essv5759895, essv5624812, essv6103612, essv6018522, essv6509090, essv5998122, essv5574545, essv5980788, essv6003300, essv5879510, essv5745671, essv5703474
SamplesNA12383, HG01173, HG00608, NA19909, NA18621, NA20766, NA18947, NA19066, NA18508, NA19399, NA11931, NA20512, NA18504, NA18959, HG00449, NA20517, HG00654, NA19443, NA19920, NA19067, NA18602, HG00271, HG00663, NA18563, HG00138, NA18940, NA18558, NA18618, NA19062, NA18574, NA11918, NA19457, NA18571, NA19904, NA20291, NA18949, HG00158, HG01069, HG00335, HG00325, NA19238, NA19235, NA19172, NA18990, NA18557, HG00326, NA20757, NA20127, NA20755, NA19921, HG01124, HG00154, NA18605, NA18538, HG00657, NA19717, NA20314, HG00556, HG00583, HG00263, NA18579, NA18981, NA18548, NA18907, HG01102, HG00284, NA18573, NA11919, NA19084, HG00690, NA19750, NA18553, NA19099, NA19059, NA19761, NA18963, HG00704, NA19682, NA18523, HG00463, HG00246, NA19395, NA19625, NA18858, NA19012, NA12043, HG01148, NA19003, NA19729, HG00611, NA19256, NA19147, NA19712, NA18564, NA19747, NA12272, HG00734, NA20520, HG01357, HG01174, NA20527, HG00237, NA19679, NA19311, NA18943, NA12763, HG00418, NA18610, NA19785, HG00342, NA19716, NA20289, NA18873, HG00112, NA11843, NA19080, NA19780, HG00377, NA19312, HG00628, NA18624, NA20585, NA19063, NA12154, NA19429, NA19346, HG00581, NA18577, NA18620, HG01060, HG01441, NA19648, NA19397, HG00249, HG00187, HG01079, NA18507, NA18599, NA20813, NA18603, HG00318, NA12004, NA20507, NA19190, NA18870, NA19068, HG01250, NA19746, NA19396, NA19660, NA19076, NA19005, NA18944, HG01070, HG00501, NA19382, NA18489, NA19762, NA19728, NA19448, NA20586, NA18635, NA12348, HG00634, NA19131, HG00610, HG01354, NA19771, NA19088, NA12287, HG00247, HG00590, HG00120, NA19383, NA18977, NA19917, NA19719, NA19075, NA18617, NA19317, NA18986, HG00309, HG00427, NA19901, NA18520, NA18908, HG00464, NA18614, NA11831, HG01183, NA18544, NA19247, NA18613, HG01187, HG00596, HG00328, NA12342, NA19077, NA19462, HG00653, HG00577, HG00701, NA19391, HG00584, HG00533, NA19788, NA20344, HG00708, NA19774, NA19449, NA12249, NA20282, NA19338, NA20828, NA19756, NA18536, NA20542, NA19675, NA19436, NA19685, NA19401, NA20773, NA20522, NA18909, HG01190, NA19108, NA18543, NA18559, NA18950, NA19732, HG00136, NA19240, NA19773, HG01494, HG00607, NA19786, HG00319, NA19085, HG00269, NA19818, NA19759, NA19376, NA19078, HG00672, HG00421, HG01055, NA12830, HG00186, HG00131, HG00343, HG00372, HG01377, HG00345, NA18549, NA18562, NA18965
Known GenesTNKS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673959
Frequency
Sample Size1151
Observed Gain0
Observed Loss256
Observed Complex0
Frequencyn/a


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