A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657237



Internal ID9576656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101345959..101347865hg38UCSC Ensembl
Outerchr4:101345388..101348335hg38UCSC Ensembl
Innerchr4:102267116..102269022hg19UCSC Ensembl
Outerchr4:102266545..102269492hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554874, essv5442133, essv5439194, essv5609940, essv6062209, essv5890262, essv6366230, essv5769194, essv6106366, essv5932697, essv6084814, essv6178283, essv5558023, essv5489034, essv6060692, essv5611592, essv5444979, essv5833615, essv5967075, essv5806611, essv5549756, essv6365047, essv5839792, essv6502859, essv5757753, essv6277554, essv5560858, essv5624669, essv6564222, essv5457067, essv6374669, essv6365779, essv5903338, essv6457575, essv5990139, essv5729477, essv5492383, essv6418905, essv5499199, essv6114795, essv6592562, essv6356450, essv5976292, essv5414253, essv6452207, essv5903944, essv5719003, essv5695288, essv5470928, essv6359136, essv6020464, essv5911999, essv5679904, essv5412140, essv5604094, essv5453793, essv5456610, essv5437953, essv6525626, essv6442257, essv5718586, essv6400941, essv6505885, essv6482219, essv6532574, essv6463457, essv6535754, essv6279345, essv6274718, essv5710779, essv5416549, essv5779549, essv5847341, essv6058374, essv6475320, essv5397347, essv5673826, essv5810246, essv6280105, essv6147354, essv6035820, essv5469229, essv5420740, essv6180479, essv5887930, essv6142443, essv5900299, essv6000725, essv5815810, essv6276700, essv5683093, essv5487803, essv5483830, essv6194517, essv6159601, essv5514588, essv5566635, essv6260401, essv6097123, essv6571484, essv6108536, essv5623012, essv6321048, essv6591355, essv5531334, essv6049904, essv6446306, essv6433121, essv6383032, essv6360198, essv5708950, essv5428328, essv6396028, essv5888232, essv5462987, essv6329858, essv5603766, essv5588094, essv6480775, essv6580798, essv6000753, essv6118920, essv5924680, essv5978028, essv6086430, essv6203190, essv6298756, essv5854470, essv5905717, essv5698203, essv6578882, essv6263672, essv5802199, essv6409207, essv5548516, essv5498561, essv5987746, essv6217609, essv6419220, essv5775958, essv6137721, essv5460559, essv6432662, essv5462352, essv6339961, essv6254229, essv6041897, essv6310700, essv5564016, essv6508304, essv5751689, essv6322212, essv6389752, essv6199831, essv6158695, essv6340006, essv6546937, essv6393399, essv5887732, essv5661476, essv5618392, essv6149653, essv5699217, essv5529773, essv6001490, essv5932745, essv5950002, essv5714586, essv5969070, essv5844275, essv5670095, essv6528708, essv5407835, essv5756077, essv5619272, essv6573328, essv6507314, essv6182869, essv5459756, essv6179506, essv5926379, essv5416155, essv5475016, essv6288599, essv6227557, essv5806713, essv5494518, essv5449218, essv5874821, essv5621332, essv6326985, essv6593055, essv5669189, essv5452308, essv6467454, essv5803931, essv6468310, essv6168628, essv6040365, essv5550510, essv6268117, essv6099411, essv5561321, essv5497608, essv6317157, essv5875047, essv6498742, essv6469739, essv6417045, essv6397697, essv5679691, essv5859585, essv5467623, essv6317815, essv6184051, essv5848049, essv5524040, essv6537782, essv6113610, essv6395367, essv6278324, essv6142006, essv6112553, essv5973126, essv6470884, essv6493659, essv5811025, essv6245785, essv5746183, essv6064343, essv5526221, essv5960910, essv5858808, essv6543011, essv6122366, essv6073739, essv6585790, essv5645952, essv6491879, essv6252249, essv5923851, essv5481947, essv5744577, essv6504518, essv6499213, essv6507875, essv5933593, essv6519219, essv6204326, essv5815451, essv5654040, essv6204937, essv5680390, essv6231815, essv5831227, essv6591641, essv5677970, essv6441967, essv6251284, essv6398737, essv5693756, essv5890756, essv5712787, essv5545358, essv5560667, essv6308729, essv5677445, essv6092124, essv5872595, essv6420887, essv6249835, essv5885539, essv5521253, essv5626434, essv5585604, essv5996715, essv6044561, essv5490351, essv6411756, essv6255668, essv5477314, essv5698723, essv5415270, essv6415130, essv6498390, essv6248056, essv5717544, essv6581131, essv5858027, essv5595991, essv6336169, essv5497511, essv5494073, essv6135289, essv5726457, essv5423239, essv6448186, essv6098537, essv5455356, essv5646343, essv5576067, essv6484972, essv6509382, essv6226762, essv5743954, essv6058171, essv5962898, essv5935087, essv5898375, essv6063824, essv6537971, essv6594374, essv5955360, essv6226607, essv6205023, essv6309707, essv6343180, essv5990668, essv5773677, essv5536906, essv6455644, essv6278182, essv5961323, essv5583323, essv6185144, essv6172847, essv5792809, essv5926039, essv5935842, essv6546212, essv5781838, essv5603790, essv5424988, essv5468228, essv6130133, essv5479176, essv6441920, essv5699759, essv5437908, essv6414641, essv5785273, essv5486704, essv5632819, essv5767211, essv6295022, essv5528894, essv6354456, essv5950142, essv5727003, essv6182582, essv5629135, essv5935070, essv6384237, essv5693194, essv5574147, essv6234635, essv6345250, essv5697847, essv5506803, essv5797480, essv5397974
SamplesHG00189, HG00650, HG00542, HG00442, HG01173, HG00143, HG01462, HG00608, HG00142, NA19664, HG00671, HG00257, HG01066, HG00315, HG00151, HG00233, HG00181, NA19684, HG00737, HG00449, HG01461, HG00654, HG01051, HG00261, HG00693, HG00337, HG00271, HG00663, HG00641, HG00138, HG01350, HG00589, HG00272, HG00122, HG01351, NA19678, HG01167, HG01168, HG01492, HG01083, HG01365, HG00334, HG00537, HG00243, HG00158, HG00512, HG00281, HG00139, HG01069, NA19720, HG01080, HG00335, HG00148, HG00156, HG00325, HG00232, HG00534, HG00705, NA19722, HG00160, HG00118, HG01198, HG01048, HG00326, HG00323, HG00253, HG01124, HG00137, HG00154, HG00731, HG00443, HG00268, HG00266, HG01171, HG00282, HG00557, HG00245, HG00732, HG01095, HG00657, HG00368, NA19717, NA19663, HG00556, HG00583, HG00344, HG01498, HG00263, HG00275, HG01149, HG00239, HG00692, HG00740, HG01047, NA19654, HG01102, HG00324, HG00284, HG00651, HG00250, HG00690, HG00404, HG00531, HG00479, HG00331, HG00684, HG01101, HG00140, HG01334, NA19761, HG00152, HG00146, HG00704, NA19682, HG00463, HG00246, HG01107, HG01075, HG01148, HG00258, NA19729, HG00611, NA19652, HG00155, HG00254, HG00336, HG00265, HG00625, HG00353, HG00580, HG01551, HG00734, HG01357, HG01174, HG01375, HG00473, HG00237, NA19679, HG01137, HG00116, HG00662, HG00418, HG01489, HG01342, HG00620, HG00339, HG00614, HG00513, HG00478, HG00259, NA19779, HG00342, NA19716, HG00310, HG00112, NA19770, HG00280, NA19780, HG00377, HG00274, HG00595, HG01125, HG00171, HG01437, HG00581, NA19676, HG00593, HG00626, HG00403, HG00096, HG01060, HG00114, HG01441, HG00592, HG01356, HG00536, HG00231, HG00249, HG00361, HG01359, HG00524, HG01052, HG00187, HG01079, HG00100, HG01188, HG01389, HG01374, HG00640, HG00367, HG00318, HG01465, HG00699, HG00103, NA19777, HG01456, HG00566, HG00179, HG00177, HG00150, HG01140, HG00327, HG01250, NA19746, NA19660, HG01366, HG01070, HG00251, HG00501, NA19762, HG01488, HG00702, HG00689, HG00448, HG00173, NA19723, HG00330, HG00634, HG00736, HG00610, HG00346, HG01354, HG00247, HG00270, NA19782, NA19681, HG00590, HG01134, HG00277, HG01455, NA19651, HG01067, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, HG01072, HG00422, HG01176, HG01440, HG00309, HG00182, HG00427, NA19725, HG00637, HG00338, HG00159, HG00178, HG00530, HG00419, HG00464, HG00108, HG00260, HG01353, HG00543, HG00313, HG00133, HG01183, HG01136, HG00149, HG00560, HG00629, NA19657, HG01360, HG00183, HG00176, HG01187, HG00596, HG01384, HG00328, HG00428, HG00190, HG00577, HG00701, HG00475, HG00436, HG00320, HG00584, HG00533, HG00500, NA19788, HG00619, NA19776, HG00708, HG00635, HG01390, HG01073, HG00273, NA19655, HG00373, HG01197, HG01383, HG01182, HG00117, HG00613, HG00525, HG00321, HG00157, HG00276, NA19756, HG00141, NA19675, HG01204, NA19685, HG00476, HG00124, HG00119, HG01190, HG00285, HG00565, HG00366, HG00375, HG00357, NA19732, HG00136, HG00638, HG00278, HG00607, HG00319, HG01108, HG00256, HG00269, HG00125, NA19759, HG00707, HG00672, HG00111, HG00578, HG01491, HG00312, HG00421, HG00329, HG00656, HG01254, HG01055, HG00174, HG00123, HG00186, HG00698, HG00131, NA19726, HG00343, HG01251, HG00372, HG00252, NA19661, HG01377, HG00472, HG01378, NA19755, HG01082, HG00345, HG01112, HG01097, HG01191, HG00180, HG01061, HG00437
Known GenesFLJ20021, PPP3CA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657237
Frequency
Sample Size1151
Observed Gain0
Observed Loss361
Observed Complex0
Frequencyn/a


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