A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658653



Internal ID9578072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45906708..45907144hg38UCSC Ensembl
chr20:44535347..44535783hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5768757, essv5440744, essv5683314, essv6388798, essv5832690, essv5680120, essv5643537, essv5589708, essv6035272, essv6006446, essv6195488, essv5966350, essv5572613, essv5821639, essv6338184, essv6483727, essv6037633, essv5763110, essv5953772, essv6423171, essv5405319, essv5995413, essv5910948, essv6171075, essv5770635, essv5594082, essv5509473, essv6299344, essv6003960, essv5673947, essv5631517, essv6324629, essv5878840, essv6556495, essv6302446, essv5859199, essv6433571, essv6591104, essv5993763, essv6585041, essv6133177, essv5907587, essv6536242, essv5442349, essv6591550, essv5909001, essv6414963, essv6118716, essv5656455, essv6258693, essv5924455, essv5401743, essv5451211, essv5571065, essv6162571, essv5627863, essv6140613, essv5487088, essv6169422, essv5816755, essv6278537, essv6249159, essv5724391, essv5440642, essv5399201, essv6017043, essv5528458, essv6147450, essv5406684, essv6386067, essv6044601, essv6381541, essv5547958, essv6517132, essv6117446, essv6328057, essv5457995, essv5647664, essv6515685, essv5744488, essv6288518, essv6092468, essv5932158, essv6545202, essv6503322, essv6457061, essv5403137, essv6409436, essv6415407, essv5737463, essv5513357, essv6494400, essv6068411, essv6543677, essv5474503, essv5859055, essv5454892, essv6506909, essv5708691, essv5522193, essv5714948, essv5560973, essv5534175, essv6334659, essv5753676, essv6329335, essv5827565, essv5743100, essv6260978, essv6068845, essv5620556, essv6039958, essv5531740, essv6569505, essv6579915, essv5790469, essv6277556, essv6100002, essv6560728, essv6184852, essv6041926, essv5608583, essv6325222, essv5410686, essv5960223, essv6509988, essv5488746, essv5878376, essv6534724, essv6293772, essv5968908, essv6131670, essv5920362, essv6164939, essv6226984, essv6116707, essv6095269, essv6069774, essv5793688, essv6190891, essv6146673, essv6051038, essv5882454, essv6447170, essv6518175, essv5469051, essv5981098, essv5776693, essv6172933, essv6176653, essv5924700, essv6559851, essv6085806, essv6168942, essv6583135, essv6340106, essv5839677, essv6577958, essv5708420, essv5510085, essv6522040, essv5486386, essv6422135, essv5918691, essv6206722, essv6273258, essv5752783, essv6420652, essv5763488, essv5736200, essv5581141, essv6571477, essv5981933, essv5655565, essv6588445, essv6468185, essv5988060, essv5689173, essv6357694, essv6289974, essv5777738, essv6220250, essv5713558, essv5633782, essv6269619, essv5561104, essv5782404, essv5735842, essv5447666, essv6146564, essv5799782, essv5726275, essv6325300, essv6460151, essv5643541, essv6381927, essv6268166, essv5990759, essv6364167, essv6497738, essv6350852, essv5646392, essv5581378, essv5693565, essv6497618, essv6068587, essv6328721, essv6182073, essv5905891, essv5554625, essv5741927, essv5847319, essv5874381, essv6085863, essv6029609, essv5655464, essv5492856, essv6454291, essv6377376
SamplesNA19818, HG00111, HG01491, NA20582, HG00329, HG00342, HG01055, HG00123, NA20510, NA12830, HG00310, HG00186, HG00112, NA20807, HG00280, HG00131, HG00343, HG00377, HG00372, HG00274, HG00252, NA20503, HG01377, HG01082, HG00171, HG00345, NA12006, NA12154, HG01112, HG01097, HG00180, HG01437, NA20772, HG00096, HG01441, NA11830, NA12842, HG01356, HG00143, NA20543, HG00231, HG01462, HG00142, NA12286, HG01359, HG01079, HG00100, NA12843, HG01188, NA11933, HG00257, HG01389, HG01374, HG00315, HG00306, HG00640, HG00367, HG00244, HG01465, HG00103, NA19819, NA12058, HG00737, HG00179, HG00150, HG01461, NA12400, HG01051, NA19920, NA20771, NA12750, NA12155, NA07357, HG01140, HG00337, HG00327, NA07346, HG01250, HG00641, NA19396, HG00138, HG00127, HG01350, HG01366, HG01070, HG00122, HG01351, NA19678, NA20586, NA20756, NA20795, HG00330, NA20769, NA12348, HG01492, HG00736, NA18916, NA07347, HG00346, NA12283, HG01354, NA20768, NA19771, HG01083, HG00247, HG00369, HG00334, NA20513, NA19681, HG00185, NA20291, HG00158, NA20541, NA12761, HG01134, HG00281, NA12282, HG00277, NA12275, HG01069, HG01080, HG01067, HG00335, HG00148, HG00106, HG01170, HG00236, NA20812, HG00325, NA19719, HG01072, HG00232, NA11994, NA19317, NA12889, HG01440, HG00309, HG00182, HG00160, HG00118, HG00338, HG00159, HG01048, HG00253, NA12748, NA11993, HG00108, NA11831, NA10847, HG01353, HG00137, HG00133, HG01183, HG01136, HG00154, HG00149, HG00268, HG00183, HG00176, HG00282, NA19403, HG00328, HG00245, HG00732, NA20521, NA20810, NA18516, HG00320, HG00263, HG00275, NA20506, HG01149, HG00239, NA18907, HG01047, HG01102, HG00273, HG00250, NA20538, HG00140, HG01334, NA19761, HG00152, HG00146, NA19452, NA19682, NA19318, HG00246, NA12546, HG01075, HG00258, NA20799, NA20522, NA20801, NA12716, HG00254, HG00336, NA19834, HG00375, HG00734, NA20520, HG01357, HG01174, NA20530, NA20527, HG00237, NA19679, NA19428, NA19786, HG01137, NA20803, NA07037, HG00256, NA12763, HG01489, HG01342, NA06986, HG00339, HG00269
Known GenesPLTP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658653
Frequency
Sample Size1151
Observed Gain0
Observed Loss219
Observed Complex0
Frequencyn/a


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