A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662604



Internal ID9582023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40612215..40612864hg38UCSC Ensembl
chr8:40469734..40470383hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6008548, essv6419090, essv5572299, essv6517635, essv6246598, essv5493529, essv5754119, essv5825394, essv5633543, essv5425540, essv6443269, essv5899427, essv6258194, essv5650375, essv5965091, essv5473728, essv5560021, essv6507455, essv5471514, essv5668107, essv6148971, essv6348528, essv5820117, essv5599685, essv5674346, essv6025469, essv6191318, essv6210883, essv5497632, essv6226654, essv6269441, essv6340047, essv5539443, essv6504838, essv6072989, essv6059189, essv6116158, essv6019646, essv6561309, essv5756913, essv6146286, essv5444672, essv6467964, essv6541020, essv6535565, essv5484975, essv5682968, essv5982490, essv6011297, essv6207990, essv6528528, essv5481930, essv5877178, essv5531601, essv6460497, essv5463856, essv6577507, essv5847699, essv5487353, essv5487385, essv5627375, essv5916929, essv6396417, essv5833091, essv6082475, essv5733398, essv5570394, essv6372582, essv6484748, essv6004426, essv6373278, essv6513631, essv6015437, essv5790116, essv6001816, essv5683601, essv6430139, essv6598439, essv5992320, essv5602845, essv6263469, essv6343410, essv5741199, essv6369973, essv5502004, essv6538416, essv5821599, essv6002955, essv6360511, essv5948426, essv6504014, essv5587495, essv5977212, essv5405923, essv6385420, essv5680726, essv6479347, essv6285151, essv5415397, essv5652057, essv5984898, essv6258159, essv6569943, essv6413299, essv5897052, essv6169528, essv5837792, essv5651194, essv5781563, essv5449395, essv5849158, essv6259682, essv5447504, essv6356108, essv5898720, essv6199326, essv5734732, essv5724635, essv5492848, essv6287359, essv6366573, essv6515634, essv5584874, essv5689829, essv6065258, essv6460844, essv6014487, essv6363845, essv6036817, essv5677451, essv5717616, essv5771555, essv5627081, essv5761684, essv6584408, essv6449788, essv5434724, essv6264248, essv6318372, essv5662842, essv5769368, essv5701739, essv5632831, essv6437616, essv6476693, essv6086347, essv5883579, essv5654235, essv6102359, essv6185741, essv6476989, essv5494757, essv5680040, essv6072547, essv6097527, essv6445165, essv5459333, essv5616057, essv5842760, essv6464190, essv5806671, essv5843216, essv6474441, essv6537832, essv5905514, essv6576422, essv6092333, essv6142807, essv6347047, essv6399060, essv6569555, essv6435839, essv5864389, essv6491254, essv6266114, essv6398262, essv6123834, essv6208667, essv6236943, essv6282457, essv6418521, essv5653604, essv6029508, essv6110982, essv5670849, essv6597027, essv5492509, essv5493490, essv5793496, essv5754447, essv5852000, essv5830748, essv6098222, essv6471618, essv5583070, essv6299652, essv5783473, essv5515040, essv6548058, essv5807746, essv6236127, essv5917625, essv6481130, essv6207741, essv6524888, essv5585652, essv6143983, essv6471865, essv5431495, essv5659930, essv6317595, essv6467364, essv6396388, essv5716157, essv5752864, essv5773964, essv6100471, essv5685722, essv6590262, essv6393417, essv5764990, essv5776037, essv6595570, essv5779425, essv6517095, essv5759799, essv5492891, essv5555312, essv5778787, essv6233159, essv6091524, essv5548862, essv6035126, essv6377953, essv5989987, essv5469429, essv5585142, essv6081758, essv6122536, essv5573132, essv5821288, essv5848671, essv5964720, essv5865014, essv5953056, essv6571546, essv5720784, essv5775104, essv6187042, essv6235779, essv5544315, essv5478948, essv5546557
SamplesNA11881, NA12827, HG00309, HG00157, NA12718, HG00313, NA12043, NA19625, HG00152, HG00734, HG01359, NA12249, HG00252, HG00318, NA07347, NA12750, NA20787, NA20514, HG00257, NA11930, HG00182, NA07037, NA20809, HG01072, NA20785, HG01519, HG01075, NA12342, NA18933, HG00328, HG01055, NA20752, HG00351, NA20516, HG01083, HG00112, HG00186, HG00245, NA12347, NA19783, NA20796, HG00155, NA11918, HG00310, NA19455, NA06989, NA19435, NA10847, NA12340, NA20802, NA19319, NA20296, NA19670, NA20759, HG01197, HG00117, NA19788, NA20808, NA20800, NA20816, NA12828, HG00375, NA19338, NA20778, HG00139, HG00190, NA12058, NA20539, NA20588, HG00334, HG01204, NA12776, NA07051, NA19648, HG00335, HG01101, HG00366, NA11893, HG00177, HG00331, HG00146, NA20798, HG00319, HG00737, HG00253, NA20322, NA12044, HG01171, NA19654, NA20340, NA20586, HG00247, HG00269, HG00244, HG00266, HG01107, HG00321, HG00339, NA20761, NA19428, NA20585, NA11919, NA12763, NA18912, NA19383, NA12843, HG00179, HG01140, NA20819, NA20515, NA19652, NA12004, HG00337, NA20811, HG00140, NA12155, HG00180, NA07357, NA20757, HG01048, HG00231, NA20783, HG00372, HG01495, NA20801, NA20754, HG01124, HG00141, NA12273, HG00330, NA07048, NA19398, NA11933, NA20541, HG00150, NA20765, HG00178, HG00258, HG01360, NA11831, NA11894, HG00264, HG01253, NA11995, HG00174, HG00276, NA12830, HG00357, NA20589, HG00237, NA12144, HG00133, NA20773, HG00114, NA12006, NA20769, HG00306, HG00159, NA19380, HG01437, HG00124, NA12716, NA19759, NA19771, HG01516, HG01191, NA20536, HG00268, HG01066, NA19375, HG00732, NA20790, HG00185, NA20795, NA20826, NA06986, NA20753, HG00260, HG00239, HG00265, HG00232, NA11892, NA18858, HG00116, HG00277, HG01351, NA20815, NA20797, NA20766, HG00246, HG01383, NA20813, HG00236, NA19462, HG00151, NA12891, NA10851, NA12890, HG01137, NA20537, NA19729, NA12272, HG01095, HG01334, NA12749, NA20799, NA06984, NA12413, HG00138, NA12156, NA12889, HG00262, NA19719, HG00118, HG00311, NA19755, NA20509, NA12878, NA20513, NA20317, NA11992, NA12003, HG00123, NA19749, HG00281, HG00285, NA11993, NA20812, HG01108, HG00367, NA12045, NA11829, NA20768, HG00324, NA20528, NA18853, HG01374, HG01522, HG01489, NA19381, NA20804, NA20806, NA20517, HG00136, HG00126, NA12775, NA19746, HG01067, HG01354, NA19439, HG00312, HG00361, HG01198
Known GenesZMAT4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662604
Frequency
Sample Size1151
Observed Gain0
Observed Loss253
Observed Complex0
Frequencyn/a


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