A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656999



Internal ID9923104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82708920..82711994hg38UCSC Ensembl
chr4:83630073..83633147hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg383075
hg193075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5897050, essv6122769, essv6192409, essv5897961, essv5784440, essv5444225, essv6363193, essv6165685, essv6437333, essv6399404, essv6011902, essv5464228, essv6532389, essv5969684, essv6320158, essv6204072, essv6174101, essv6347813, essv6174878, essv5700015, essv6321331, essv5961397, essv5787438, essv5782734, essv6572300, essv6045397, essv5931915, essv5876463, essv6513036, essv5869782, essv6463142, essv6550054, essv6222295, essv5419136, essv6495369, essv6300125, essv6135526, essv6488305, essv6267419, essv5770288, essv6508895, essv5498973, essv6473044, essv6224755, essv6066167, essv5726249, essv6332976, essv5655617, essv5486633, essv5994657, essv6409932, essv5624918, essv6476041, essv6397616, essv5725394, essv5679558, essv5741195, essv5797997, essv6252354, essv6338020, essv6207620, essv6406343, essv5783017, essv6072707, essv5478400, essv6047475, essv6168854, essv5806017, essv5505015, essv6099037, essv6335205, essv5443085, essv6401421, essv5836195, essv6339551, essv6526163, essv6088212, essv5857368, essv6382624, essv5620256, essv6075678, essv6350448, essv6340130, essv6439505, essv5687154, essv5435691, essv6195822, essv6482687, essv6552433, essv6017874, essv6371607, essv6371475, essv5569003, essv5977800, essv6292738, essv5416672, essv6517815, essv6017383, essv6161866, essv6557325, essv6446289, essv6125951, essv6017292, essv5396857, essv6252383, essv6389795, essv6291908, essv5760025, essv5548932, essv5618621, essv5891810, essv5577815, essv6034051, essv5572920, essv6473825, essv6314384, essv6096832, essv6180493, essv5844417, essv5971968, essv6247729, essv6301440, essv5797082, essv5864481, essv5495716, essv5982276, essv5864122, essv6552073, essv6180048, essv5578469, essv5811913, essv6124581, essv6269199, essv5985843, essv5812930, essv6418380, essv6142558, essv5898673, essv6237636, essv5532695, essv6524407, essv5832111, essv5410184, essv5930273, essv6465660, essv6241133, essv5613693, essv5755634, essv6577093, essv6210990, essv6235584, essv5962876, essv5622625, essv5448720, essv6292018, essv6332443, essv6515023, essv6468423, essv5931974, essv6251040, essv5492613, essv6520892, essv6155086, essv6234607, essv6075445, essv6218237, essv5616604, essv5476295, essv5773353, essv6223907, essv6275025, essv6009888, essv5449202, essv5430861, essv5853720, essv6592298, essv5691924, essv6525923, essv5775463, essv6152154, essv6412654, essv5592004, essv6352365, essv5619114, essv5409665, essv5594344, essv6138936, essv6188755, essv5731349, essv5461354, essv6475731, essv6192955, essv5409001, essv5972423, essv6316902, essv6121756, essv5986736, essv6389339, essv6518923, essv5999597, essv5490139, essv5984520, essv6009824, essv6331781, essv5703124, essv6567708, essv6486160, essv6404623, essv5887980, essv5583231, essv6235572, essv6509078, essv6178333, essv6172117, essv6288160, essv6378962, essv6058616, essv6404365, essv6285836, essv6042849, essv5431398, essv6014179, essv5884147, essv5585926, essv6525574, essv5673511, essv6123139, essv6305619, essv6037701, essv5459220, essv5431535, essv6183921, essv6103850, essv5901244, essv6270404, essv5682815, essv6368466, essv5771149, essv6162358, essv5578847, essv5880271, essv5650294, essv5645897, essv5423591, essv5729356, essv6477316, essv5624551, essv5708309, essv5662977, essv6302980, essv5795065, essv5771437, essv5452111, essv5990787, essv6517331, essv6482931, essv6030035, essv5593847, essv5614576, essv6503738, essv6298356, essv5909885, essv6546897, essv6279404, essv5888556, essv5896533, essv5605383, essv6561950, essv5618055, essv6014603, essv6078630, essv5994488, essv5987986, essv6333419, essv5573452, essv6407436, essv6053384, essv5551881, essv5576077, essv6550337, essv6181320, essv6280096, essv6243652, essv5983465, essv5565260, essv6147131, essv6149760, essv5967556, essv6483489, essv6268750, essv5513705, essv6533738, essv5635324, essv6384801, essv5651886, essv5480398, essv6053594, essv5786709, essv6427831, essv6490547, essv5859919, essv5455283, essv5420181, essv5682083, essv6299395, essv6190134, essv5583524, essv5490914, essv6448044, essv5583714, essv5780582, essv5606794, essv6165321, essv5599970, essv5583193, essv5983034, essv6566606, essv5468201, essv6234294, essv6544916, essv5741349, essv6461640, essv5550976, essv6150034, essv5747309, essv5403331, essv6065037, essv6262346, essv5712968, essv5770242, essv6578923, essv6510750, essv6546789, essv6199824, essv6043345, essv5832490, essv6412013, essv6325337, essv5909116, essv5844249, essv5775144, essv6391844, essv5662187, essv5666986, essv6413881, essv6356074, essv5703534, essv5496788, essv6348225, essv6347273, essv6129926, essv6172549, essv5558627, essv5995892, essv5556050, essv5631851, essv6511609, essv5558672, essv6527247, essv6144307, essv6563639, essv6305110, essv5947277, essv6131541, essv6445204, essv6385664, essv5645915, essv5457363, essv6428317, essv5530558, essv5940330, essv6138095, essv6190249, essv5883571, essv6215583, essv5399678, essv6546035, essv6161918, essv6535470, essv5983901, essv6416065, essv6232594, essv5533857, essv6337249, essv6191570, essv6467482, essv5738624, essv5908719, essv5740642, essv6389614, essv5891160, essv5772431, essv6250378, essv5721916, essv5927649, essv5496185, essv6513014, essv6367815, essv6518252, essv6580446, essv5549092, essv6263238, essv6403130, essv6156044, essv6389338, essv5732012, essv6398593, essv5735262, essv6549097, essv6024028, essv6343599, essv5883885, essv5626257, essv6118410, essv6200990, essv6403713, essv5536842, essv6378655, essv6164324, essv5499095, essv5980655, essv6300794, essv6450116, essv5698858, essv6452036, essv5596800, essv5679712, essv5936752, essv5421945, essv6471178, essv6185785, essv5763641, essv5803797, essv5937690, essv5875627, essv6325040, essv6129690, essv5397851, essv5653428, essv5806616, essv5799551, essv6070037, essv6246580, essv5448706, essv5921415, essv6392794, essv5405317, essv6453760, essv6504184, essv6585228, essv6464580, essv6506560, essv6123743, essv5916183, essv5544643, essv6455040, essv5879484, essv5701717, essv5940071, essv6292511, essv6057974, essv5475457, essv5820014, essv6467028, essv5751225, essv6067497, essv5911428, essv6556214, essv6011499, essv5817956, essv5541343, essv5792076, essv6076667, essv5671556, essv6067329, essv5717252, essv5424280, essv6528154
SamplesNA20588, HG00189, HG00442, NA19058, NA19664, NA19684, NA19377, HG01461, NA19920, NA20806, NA19067, NA19446, HG00138, HG01350, NA19379, HG00589, HG00122, NA19315, NA20589, HG01177, NA19678, NA20795, HG01492, NA07048, NA18582, HG01083, HG01365, NA19384, HG00537, HG00311, NA19079, HG00281, NA20759, NA19720, HG01519, NA19172, NA19985, NA18867, HG01550, NA19789, NA19921, NA12777, NA18605, HG00731, NA20800, HG00266, NA20521, HG01095, HG00657, NA19717, NA19663, HG00344, NA19081, NA12718, NA18948, NA19064, HG01047, HG01102, HG00690, HG00404, HG00331, NA19750, NA19453, HG01334, NA19009, NA19452, HG00463, NA19318, NA12778, NA19395, NA19625, HG00611, NA19440, NA19712, NA19434, NA18564, NA18628, HG00580, NA19444, NA19331, NA19010, NA19470, NA19083, NA20281, NA19360, NA12763, NA18615, HG01342, NA19328, NA19785, NA19223, NA19779, NA19770, HG00377, HG00274, HG00595, NA18989, NA19065, NA19429, HG01437, NA19431, HG00626, HG00096, HG01060, HG01441, NA19397, NA18924, NA19466, HG01079, NA19704, NA18507, HG01188, HG01389, HG01374, NA12045, NA19092, HG00699, NA19819, NA12058, NA20808, NA20346, HG00150, NA12400, NA12341, HG01250, NA19746, NA19076, HG00251, NA18489, NA18595, HG00689, HG00173, HG00330, HG00634, HG00610, NA19197, HG01354, NA19313, HG00247, NA19054, NA18498, NA20336, HG01110, NA20541, HG01134, HG00277, NA19651, HG00683, HG00106, HG01170, HG00262, NA19719, NA20340, NA19075, NA18617, NA19471, NA19087, HG00182, NA19002, NA18520, NA18908, NA18973, NA12748, HG00464, HG00108, NA20818, NA19007, HG01136, HG00188, HG00149, NA19657, HG01360, HG00183, HG00176, NA19707, NA20524, HG01384, NA12342, NA19077, NA19462, NA19347, NA19327, NA19982, HG00584, HG00500, NA19788, NA18910, NA20344, NA19776, NA19000, HG00373, NA18499, NA18853, NA20282, NA19685, NA19401, HG00119, NA19834, NA12775, HG00565, NA19732, HG01253, NA07051, NA19786, HG01108, NA20803, NA20341, NA19818, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, HG00312, NA19438, NA20582, NA19472, NA18987, NA19713, HG00174, NA20807, NA19726, HG00372, NA19004, NA20322, HG01097, NA20509, NA19394, NA12717, NA19703, HG01462, NA19909, NA20508, NA19066, HG00559, NA18565, HG01066, NA20816, NA20802, HG00244, NA19350, HG00181, NA20294, NA19355, NA12340, HG00737, HG00115, HG00449, NA19443, NA20771, NA18510, NA12399, HG01522, HG00693, NA18988, NA18627, NA19107, HG00641, NA19373, NA18519, NA19319, NA20774, HG01168, NA18567, HG00334, NA20287, NA19904, NA11930, HG01080, NA20278, HG00148, HG00156, HG00325, NA11932, NA19372, NA11994, NA19235, HG00705, NA19722, HG00160, HG01048, HG01133, NA20127, NA20753, HG01124, NA19908, HG01171, HG00380, HG00282, NA19403, NA18933, HG00732, HG00368, NA19455, NA20314, HG00583, NA18871, HG00740, HG00284, NA19461, NA11919, HG00140, HG01497, HG00144, NA19761, HG00152, NA18963, NA19469, NA12546, NA18541, HG01148, NA19375, NA18632, HG00155, NA19390, NA19747, HG00353, NA20815, NA19072, HG01551, HG00734, NA20790, NA19835, NA20792, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, HG01137, NA19783, HG00418, HG00620, NA19716, NA19474, NA19093, NA20510, NA18636, NA20289, NA19116, NA19080, NA19780, NA19711, NA18983, NA11892, NA19316, NA19312, HG01125, NA19463, NA20585, NA12154, NA20754, NA19676, NA11830, HG01521, HG01098, HG01356, HG00536, HG00231, HG00361, NA19914, NA19332, NA20531, HG00640, HG00367, HG00318, NA18486, HG00103, NA18545, NA19777, HG01456, NA18606, HG00179, NA18870, NA12155, HG01140, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, HG01070, NA19382, NA19762, NA19448, HG01488, NA20586, NA18982, NA19198, NA20317, NA18619, NA11992, NA19088, HG00369, NA19782, NA18964, NA18611, NA19383, NA06984, HG01495, NA19917, HG01072, NA19385, NA19317, HG01440, NA20811, NA19901, NA19456, NA19445, NA20533, HG00264, NA11993, HG00260, NA11831, HG00313, HG00133, HG01187, HG00328, NA12003, HG00190, HG00653, HG00577, NA18956, NA19236, NA18516, HG00436, NA20126, NA19658, NA18630, HG00619, HG01390, HG01073, NA19774, NA18856, HG00613, HG00157, HG00276, NA18634, HG01204, NA19436, HG00124, NA20522, NA18542, HG01190, NA19321, NA18961, HG00366, NA19435, NA18941, NA20804, NA20785, HG00308, NA19334, NA19467, NA20516, NA07037, NA19085, NA19398, HG00111, NA20348, HG01491, NA19060, NA20334, HG01055, HG00186, HG00698, HG00131, NA19213, NA20528, HG01251, NA19755, NA18488, HG01112, HG00554, HG01061
Known GenesSCD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656999
Frequency
Sample Size1151
Observed Gain0
Observed Loss478
Observed Complex0
Frequencyn/a


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