A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670229



Internal ID9936334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2808589..2809345hg38UCSC Ensembl
Outerchr4:2808168..2809915hg38UCSC Ensembl
Innerchr4:2810316..2811072hg19UCSC Ensembl
Outerchr4:2809895..2811642hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv915e199
Supporting Variantsessv5715442, essv6572521, essv6328798, essv6096192, essv6362874, essv5971962, essv6464602, essv5611069, essv5794567, essv5401296, essv5956797, essv6150311, essv5511072, essv5991341, essv6188846, essv6152026, essv6304561, essv5715404, essv5682189, essv5807351, essv6147821, essv5449844, essv6137158, essv5537450, essv6471006, essv5412935, essv6425177, essv6525605, essv5792418, essv5790898, essv5521821, essv5396917, essv5437453, essv5636794, essv6160158, essv6423314, essv6314928, essv6358561, essv6419862, essv5426444, essv5705896, essv6547331, essv6158331, essv6178866, essv5588385, essv5778961, essv5775526, essv5414242, essv6594649, essv6326043, essv6577867, essv6471885, essv6211875, essv5834572, essv5897646, essv5787847, essv6223365, essv5732932, essv6151936, essv5628313, essv5680220, essv5946742, essv6080282, essv6582447, essv5974844, essv6227654, essv5533902, essv5812023, essv5591459, essv6200547, essv6557900, essv5931930, essv5498856, essv6036525, essv6371738, essv6436196, essv6351193, essv5854580, essv5985602, essv5794390, essv5853430, essv5461519, essv5919477, essv6169663, essv6236616, essv6317135, essv5632215, essv5448239, essv6020895, essv6293682, essv6232846, essv5482425, essv6216142, essv5818291, essv6282009, essv6298676, essv6549183, essv6160439, essv5869216, essv5813041, essv6518402, essv5747451, essv6552147, essv5903453, essv6581438, essv5544510, essv6124941, essv6389793, essv5893187, essv6134907, essv5991601, essv6188944, essv6233657, essv5538375, essv5476756, essv6231895, essv6342081, essv5500499, essv5834627, essv5743055, essv6178347, essv6269990, essv5659253, essv6060161, essv5442013, essv5600875, essv5951112, essv5811504, essv6573695, essv5855608, essv6104444, essv6318006, essv5460948, essv6527460, essv5686492, essv6284867, essv5545297, essv5646612, essv5785522, essv6468447, essv5607218, essv5449708, essv6067255, essv6331596, essv6470556, essv6464377, essv6397843, essv6302944, essv6432805, essv6262775, essv6218391, essv6315876, essv6595314, essv6084885, essv5663272, essv6259401, essv6135567, essv6111097, essv6141533, essv5480739, essv5709789, essv6235522, essv5608921, essv6448018, essv6089809, essv6140224, essv6319462, essv5876000, essv5861690, essv5895475, essv5608985, essv6081389, essv6374389, essv5606381, essv5910321, essv5765052, essv5595663, essv6151790, essv6555758, essv5770976, essv5906663, essv6059409, essv5743142, essv5561905, essv5955517, essv5855027, essv5922918, essv5979907, essv6547269, essv6148025, essv5899041, essv6530107, essv6064239, essv6156727, essv6590062, essv6275910, essv5402900, essv5795780, essv5889556, essv6035320, essv5690816, essv6280227, essv6325205, essv5726800, essv5681297, essv6152298, essv5402341, essv5684382, essv5891033, essv5396645, essv5971290, essv6396297, essv5534051, essv6381524, essv5949055, essv6485494, essv5956897, essv6371902, essv5792881, essv5689614, essv6549209, essv5642784, essv6256275, essv6149921, essv6240879, essv6328796, essv6254758, essv6225594, essv5422400, essv5551339, essv5680510, essv5823620, essv6508899, essv5545099, essv6102175, essv6109210, essv6116547, essv6398668, essv6448681, essv6360965, essv5891889, essv5861399, essv5878997, essv6227216, essv6383376, essv6268828, essv5996616, essv6471364, essv6573363, essv6198675, essv5837635, essv5421814, essv5636546, essv5755266, essv5471622, essv6353686, essv5616209, essv6102971, essv6073297, essv5475313, essv5686924, essv6227279, essv5470829, essv6296895, essv5942406, essv6507024, essv5916984, essv6351258, essv5439712, essv5501576, essv5690323, essv6584016, essv5464397, essv5500346, essv6182542, essv6482278, essv5903358, essv6558413, essv6125563, essv5923756, essv5576850, essv5838608, essv5627563, essv5793098, essv5856526, essv6181248, essv6072668, essv5689458, essv6546519, essv5523919, essv6450233, essv6505506, essv6039585, essv5792001, essv5992065, essv5475616, essv5550490, essv6293803, essv6139689
SamplesNA19394, HG00650, HG00542, HG00442, HG01173, HG00143, HG01462, HG00608, HG00671, NA19399, HG00257, HG01066, HG00244, NA19350, NA19359, NA19355, NA19377, HG00737, HG00115, HG00449, HG01461, HG00654, NA19443, HG01051, HG00261, HG00693, HG00663, NA19446, HG00641, HG00138, NA19373, HG01350, NA19379, HG00589, HG00122, HG01351, HG01167, HG01168, HG01492, HG01083, HG01365, HG00537, HG00243, HG00158, HG00512, HG00139, HG01069, HG01080, HG00148, HG00232, NA19372, HG00705, HG00160, HG00118, HG01198, HG01048, HG00253, HG01124, HG00137, HG00154, HG00731, HG00443, HG01171, NA19403, HG00557, HG00245, HG00732, HG01095, HG00657, NA19455, HG00556, HG00583, HG00263, HG01149, HG00239, HG00692, HG00740, HG01047, HG01102, NA19461, HG00651, HG00250, HG00690, HG00531, HG00479, HG00684, NA19453, HG01101, HG00140, HG01334, HG00152, HG00146, NA19452, HG00704, HG00463, NA19469, NA19318, HG00246, NA19395, HG00126, HG01107, HG01075, HG01148, NA19375, HG00258, HG00611, HG00155, NA19440, HG00254, NA19390, HG00625, NA19434, HG00580, HG00734, NA19444, NA19331, HG01357, HG01174, HG01375, HG00473, HG00237, NA19470, NA19428, NA19324, NA19311, HG01113, HG00116, NA19360, HG00662, HG00418, HG01489, HG01342, HG00620, NA19328, HG00614, HG00513, HG00478, HG00259, NA19468, NA19474, HG00595, NA19430, NA19316, NA19312, HG00628, NA19463, NA19429, NA19346, HG01437, HG00581, NA19431, HG00593, HG01060, HG01441, HG01098, HG01356, HG00536, HG00231, NA19397, HG00249, NA19466, HG01359, HG00524, HG01052, NA19332, HG01079, HG00100, HG01188, HG01389, HG01374, HG01465, HG00699, HG00103, NA19393, HG00150, HG01140, HG01250, NA19396, NA19381, HG01366, HG01070, HG00251, HG00501, NA19382, NA19448, HG01488, HG00702, HG00689, HG00448, HG00634, HG00736, HG00610, HG01354, NA19313, HG00247, HG00590, NA19404, HG01134, HG01067, HG00120, NA19383, HG00683, HG00106, HG01170, HG00236, HG00262, HG01072, NA19371, NA19385, HG00422, NA19471, NA19317, HG01176, HG01440, HG00427, HG00637, HG00159, NA19445, HG00530, HG00419, NA19451, HG00264, HG00464, HG00108, HG00260, HG00543, HG00133, HG01183, HG01136, HG00629, NA19437, HG01360, HG01187, HG00428, NA19462, NA19347, HG00653, HG00701, NA19391, HG00475, HG00436, HG00584, HG00533, HG00500, HG00619, HG00708, HG00635, HG01390, HG01073, NA19449, HG01197, HG01383, HG01182, HG00613, HG00525, HG00157, NA19338, HG01204, NA19436, NA19401, HG00476, HG00124, HG00119, HG01190, NA19473, HG01253, HG00136, HG00638, NA19380, HG00607, NA19439, NA19467, HG01108, HG00256, HG00125, NA19398, HG00707, HG00672, HG00111, HG00578, HG01491, NA19438, NA19472, HG00421, HG00656, HG01055, HG00123, HG00698, HG00131, HG01251, HG00252, HG01377, HG00472, HG01378, HG01082, HG01097, HG01191, HG01061, HG00437
Known GenesSH3BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670229
Frequency
Sample Size1151
Observed Gain0
Observed Loss299
Observed Complex0
Frequencyn/a


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