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 Variantsessv6199831, essv6365047, essv5661476, essv5779549, essv6194517, essv6329858, essv6446306, essv6298756, essv5714586, essv6203190, essv5987746, essv5588094, essv6397697, essv5489034, essv6097123, essv6204937, essv5497511, essv6528708, essv6084814, essv5442133, essv5490351, essv5548516, essv6398737, essv5420740, essv6417045, essv5679904, essv6060692, essv5654040, essv5699217, essv6248056, essv5699759, essv5744577, essv6505885, essv6322212, essv5497608, essv6184051, essv6360198, essv6480775, essv5872595, essv5887930, essv6178283, essv6354456, essv6114795, essv5792809, essv5595991, essv5717544, essv6591355, essv5751689, essv6508304, essv6509382, essv6252249, essv5561321, essv6180479, essv5990139, essv6499213, essv5933593, essv5935087, essv6340006, essv5645952, essv6374669, essv5412140, essv6343180, essv6000753, essv5619272, essv5475016, essv5566635, essv5467623, essv5969070, essv6130133, essv6040365, essv6442257, essv6507875, essv5680390, essv6276700, essv6278182, essv5887732, essv6064343, essv6278324, essv5712787, essv5844275, essv5858808, essv6204326, essv6491879, essv6418905, essv5756077, essv5815810, essv6366230, essv5697847, essv5900299, essv6063824, essv6226762, essv5428328, essv6274718, essv5833615, essv5719003, essv6594374, essv5457067, essv5560858, essv5673826, essv5626434, essv6393399, essv5462987, essv5797480, essv6519219, essv5545358, essv5811025, essv5935070, essv6400941, essv5487803, essv6044561, essv5698723, essv5468228, essv5494518, essv6158695, essv6448186, essv6592562, essv5437908, essv5976292, essv6441920, essv6546212, essv6142443, essv5802199, essv6086430, essv5693756, essv6122366, essv5529773, essv5950142, essv5618392, essv5629135, essv6280105, essv6578882, essv5481947, essv6415130, essv5603790, essv5670095, essv5729477, essv6554874, essv5831227, essv5911999, essv6309707, essv5815451, essv5874821, essv5978028, essv6159601, essv5550510, essv6409207, essv6470884, essv5549756, essv5526221, essv5775958, essv5810246, essv6507314, essv5858027, essv6113610, essv6149653, essv6546937, essv5973126, essv6185144, essv5397347, essv5499199, essv5514588, essv6268117, essv5646343, essv6537971, essv5781838, essv5854470, essv6179506, essv6182869, essv5397974, essv5439194, essv5669189, essv5574147, essv6035820, essv6062209, essv5624669, essv6433121, essv5416549, essv5746183, essv5960910, essv6249835, essv5531334, essv5708950, essv5905717, essv5558023, essv5583323, essv5726457, essv5890262, essv5935842, essv6455644, essv6482219, essv5806611, essv5955360, essv6226607, essv6317157, essv5462352, essv6112553, essv6356450, essv5437953, essv5585604, essv5506803, essv6441967, essv6593055, essv5848049, essv6359136, essv5414253, essv5423239, essv5839792, essv5932697, essv6498742, essv6525626, essv6581131, essv5743954, essv5885539, essv6457575, essv5926379, essv6041897, essv5444979, essv5528894, essv5875047, essv5962898, essv6277554, essv6432662, essv5424988, essv5536906, essv5785273, essv6058374, essv6326985, essv5483830, essv5888232, essv6147354, essv5767211, essv6502859, essv6295022, essv6452207, essv6254229, essv6106366, essv6571484, essv5677445, essv5452308, essv5456610, essv6484972, essv6591641, essv6099411, essv6532574, essv6414641, essv5609940, essv5727003, essv6118920, essv5455356, essv5683093, essv5898375, essv5932745, essv6279345, essv5479176, essv5621332, essv6263672, essv6365779, essv6251284, essv5459756, essv5564016, essv6535754, essv5806713, essv5603766, essv5623012, essv6308729, essv6321048, essv6231815, essv6580798, essv6384237, essv6411756, essv5890756, essv6420887, essv5847341, essv5923851, essv5524040, essv6395367, essv5967075, essv5996715, essv6396028, essv5486704, essv6172847, essv6255668, essv6336169, essv6468310, essv6098537, essv5990668, essv6168628, essv5604094, essv6234635, essv5924680, essv5407835, essv5698203, essv5769194, essv5710779, essv5903338, essv6469739, essv6504518, essv6020464, essv5470928, essv5611592, essv5926039, essv6092124, essv6135289, essv6564222, essv6493659, essv6000725, essv6475320, essv5415270, essv5632819, essv6182582, essv5859585, essv5757753, essv5773677, essv6205023, essv6537782, essv6142006, essv5693194, essv6345250, essv5950002, essv6585790, essv5521253, essv5477314, essv5576067, essv5677970, essv6543011, essv6463457, essv5416155, essv6227557, essv6108536, essv5560667, essv5460559, essv6310700, essv5498561, essv6001490, essv6260401, essv5469229, essv5453793, essv5903944, essv6573328, essv5961323, essv6317815, essv5494073, essv5492383, essv6383032, essv6498390, essv6137721, essv6389752, essv5695288, essv6288599, essv6049904, essv6073739, essv6339961, essv5718586, essv5803931, essv5679691, essv5449218, essv6467454, essv6217609, essv6419220, essv6058171, essv6245785
SamplesHG01357, HG00613, HG01441, HG00309, HG00157, HG00537, HG00252, HG01440, HG00257, HG00182, HG00619, HG01353, HG00418, HG00328, HG00705, HG00437, HG00500, HG01173, HG00171, HG01083, HG00112, HG00274, HG00186, HG00464, HG00131, HG00565, HG00155, HG00160, HG01079, HG01389, HG00463, HG01197, HG00657, HG00614, HG01051, HG01365, HG00189, HG00577, NA19788, HG01082, HG01488, HG00428, HG00475, HG00542, HG01174, HG00368, HG00148, HG01350, HG00139, HG01167, HG00683, HG00698, HG00111, HG00334, HG00581, NA19685, HG00187, HG00404, NA19651, HG00280, HG00335, HG01101, HG01134, HG01168, NA19682, HG00177, HG00319, HG00737, HG00253, HG00699, HG00156, NA19761, HG01171, HG00353, HG00269, HG00592, HG01107, HG00158, HG00556, HG01148, HG00346, HG01384, HG00593, HG00472, HG01375, NA19652, HG00421, HG00583, HG00337, HG01378, NA19660, NA19675, HG00140, HG00638, HG00180, HG00259, HG00096, HG01048, NA19722, HG00610, HG01061, HG00231, HG00372, HG00692, HG01183, HG01047, HG00689, HG01124, HG00141, HG00315, HG00330, HG00149, HG00338, HG00150, HG00533, HG00178, HG00419, HG00125, HG00258, HG01360, HG01136, HG00174, HG00634, HG00637, NA19681, HG00243, HG00254, NA19663, NA19679, HG00276, HG00284, HG00403, HG01187, HG00357, HG00237, HG00343, HG00584, NA19684, HG00133, HG00662, HG00114, NA19676, HG00373, HG00436, NA19725, HG00159, HG00620, HG01437, HG00124, HG01097, HG00108, HG01465, NA19759, HG00233, HG01191, HG00268, HG00640, HG01066, HG00732, HG00325, HG00629, NA19716, HG00263, HG01455, HG00176, HG00260, NA19657, HG00560, HG01073, HG00239, NA19664, HG00265, HG00501, HG00672, HG00273, HG00282, HG01170, HG00232, HG01069, HG01176, HG01356, HG00249, HG00478, HG00116, HG00277, HG00103, HG01080, HG01351, HG00740, HG00513, HG00524, NA19720, HG00329, HG00512, HG00534, HG01070, HG00246, HG00525, HG01060, HG01383, HG00377, HG00236, HG00589, HG01149, NA19777, HG00120, HG00151, HG00427, HG01137, HG00590, HG00595, HG01190, NA19729, HG01095, HG00443, HG00181, NA19723, HG00611, HG01334, HG00650, HG00138, HG00663, HG00262, HG00580, HG01112, NA19719, HG00118, HG00448, NA19755, HG00608, HG00654, HG01390, HG00530, NA19770, HG00123, HG00281, HG00285, NA19717, HG00656, NA19655, HG00142, HG01366, NA19732, HG00422, HG00708, HG01108, HG01251, HG00367, HG00693, HG00566, HG01125, NA19756, HG00251, HG00119, HG00320, HG01498, HG00275, HG00324, HG00625, HG00690, HG00641, HG00183, HG00442, HG01374, HG00473, HG00137, HG01102, HG01462, HG01489, HG00626, HG00684, HG01377, HG00143, HG00336, HG00476, HG00671, HG00272, HG00345, HG00702, HG00704, HG00271, HG00278, NA19661, NA19779, HG00136, NA19746, HG00531, HG01067, HG01354, HG00312, HG00327, HG00361, HG01198, HG00323, HG00313, HG00152, HG00734, HG01359, HG00318, HG00536, HG00607, HG01250, HG00344, HG01072, HG01052, HG00100, HG01075, HG01055, HG01342, HG00731, HG00245, HG00596, HG00736, HG00449, HG00310, HG00261, HG00707, HG00117, HG01492, HG00375, HG00173, HG00326, HG01491, NA19782, HG00270, HG00190, HG01182, HG00122, HG00106, HG00701, HG01188, HG01204, HG01461, HG00651, NA19678, HG00557, HG00366, HG00578, HG00331, HG00146, NA19780, HG01551, NA19776, HG00479, NA19654, HG00247, HG00256, HG00342, HG00266, HG00635, NA19762, HG00543, HG00154, HG01254, HG00321, HG00339, NA19726, HG00179, HG00250, HG01140, HG01456
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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