A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662299



Internal ID9581718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12554203..12554585hg38UCSC Ensembl
chr10:12596202..12596584hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322560, essv6537522, essv6449170, essv6494362, essv5497239, essv5832526, essv6377475, essv5916420, essv5565928, essv5713246, essv5723524, essv6243935, essv5469896, essv6119933, essv5929202, essv6184880, essv6330351, essv6552235, essv6403508, essv5606067, essv6447549, essv6549121, essv6373306, essv5422974, essv5431381, essv5678970, essv6111681, essv6396740, essv6400162, essv6124068, essv6075693, essv6499818, essv5751712, essv5463532, essv6201703, essv6547137, essv5902679, essv6152704, essv6137105, essv6103311, essv6257457, essv6473747, essv5452710, essv6092591, essv5953255, essv6340347, essv5644947, essv5718898, essv6227224, essv5473807, essv5857016, essv5878204, essv5519318, essv6320474, essv6158175, essv6243613, essv6387432, essv5480481, essv6335138, essv5693594, essv5789642, essv5697725, essv6492660, essv5763060, essv5534081, essv5791416, essv6029496, essv6088853, essv6138553, essv6085763, essv6279097, essv5397293, essv6287990, essv6462573, essv6495978, essv6170800, essv6546182, essv5710317, essv5762889, essv5541244, essv5485352, essv6146087, essv6518843, essv5723624, essv5773800, essv6428327, essv6306059, essv6317517, essv6040026, essv5517656, essv5621835, essv6398870, essv5847551, essv6443841, essv6222409, essv6379276, essv5404871, essv5878736, essv6262325, essv6509181, essv6511016, essv5473150, essv5890740, essv5456039, essv5658768, essv5682799, essv5731357, essv5869567, essv6057687, essv6136281, essv5602316, essv6225499, essv6395435, essv6485789, essv5620847, essv6167048, essv5653070, essv5991498, essv6338659, essv6592287, essv5511993, essv5686245, essv6131714, essv6001336, essv5797660, essv5982789, essv5832442, essv6587107, essv5507210, essv5639294, essv5658795, essv5940458, essv6076282, essv5691218, essv6475524, essv6576190, essv6578011, essv5953594, essv6457972, essv6517607, essv6032322, essv6092381, essv6426537, essv6467299, essv6006470, essv6370421, essv6502100, essv5445660, essv5753661, essv6580621, essv5504780, essv5773818, essv5930041, essv6348174, essv5726584, essv5877634, essv6290215, essv5600678, essv6297148, essv5456929, essv6217439, essv6378469, essv5733500, essv6302493, essv5902180, essv6015117, essv6456133, essv6469708, essv5693688, essv6378500, essv6479195, essv5649815, essv5701472, essv5971361, essv6305747, essv6346791, essv6368745, essv5483305, essv5568996, essv6274557, essv6592717, essv5682350, essv6592664, essv6265759, essv6535418, essv5497183, essv5674956, essv5730654, essv5790891, essv6014236, essv5585828, essv6267144, essv6400681, essv6406020, essv6095216, essv6017398, essv5453607, essv6363261, essv6594335, essv5709635, essv5400721, essv5543190, essv5670364, essv6062924, essv5910067, essv5624189, essv6515923, essv5811226, essv5723042, essv5824183, essv5982057, essv6036036, essv5720116, essv5841902, essv6283453, essv6491706, essv5513209, essv6067415, essv6174103, essv5904743, essv6282422, essv5665741, essv6337099, essv6165274, essv6310596, essv5900202, essv5998695, essv6284676, essv5604210, essv6135327, essv6350426, essv6152795, essv6506165, essv5461529, essv6552607, essv5519228, essv5649035, essv5653339, essv5894257, essv5443395, essv6065586, essv5657389, essv5790166, essv5828297, essv5414820, essv5835408, essv5875721, essv6536949, essv6173090, essv5866539, essv5455828, essv5553969, essv6414255, essv5472439, essv6465886, essv5828519, essv6324916, essv6084054, essv5673664, essv6220347, essv5786497, essv5549344, essv6122347, essv6164978, essv5560376, essv5729438, essv6231309, essv6140781, essv6161145, essv5765317, essv6466682, essv5582208, essv6584399, essv5679541, essv5838896, essv5404215, essv5995340, essv6238327, essv6248883, essv5553229, essv5759556, essv5911299, essv6518959, essv6178051, essv5619162, essv5679842, essv6296571, essv6170216, essv6352659, essv5926216, essv6339557, essv6402706, essv5988327, essv6260914, essv6438861, essv6129911, essv6179828, essv6218004, essv6521892, essv6118623, essv6561938, essv6080466, essv6117601, essv5992719, essv5773013, essv5844151, essv6289773, essv6002703, essv6434772, essv5925520, essv6381804, essv6188142, essv5906253, essv6508325, essv6590916, essv6571027, essv5793234, essv6055585, essv6121147, essv5688713, essv6055946, essv5981463, essv6532487, essv5467987, essv6431871, essv5878065, essv6361613, essv6327380, essv6545927, essv6588752, essv5571025, essv5500642, essv6173877, essv5522742, essv5684257, essv6527656, essv6168711, essv5671903, essv6046460, essv6512332, essv5430793, essv5972264, essv6502431, essv6506054, essv6320346, essv6072499, essv6287851, essv5528130, essv5603383, essv5567995, essv5538636, essv6330377, essv5581158, essv6117701, essv6576220, essv5644280, essv5624916, essv6044412, essv5772304, essv6261720, essv6334326, essv5502849, essv5732120, essv5771585, essv5832343, essv5784374, essv5597037, essv5955323, essv5472003, essv5784794, essv5519872
SamplesHG01357, HG00380, NA19012, HG00309, HG00157, NA12154, HG00252, HG00257, NA18616, HG00182, NA18530, HG00418, NA12286, NA12342, NA18523, HG00705, HG00437, HG00500, HG01173, NA11920, HG01083, NA20510, NA19209, HG00112, HG00274, HG00186, HG00464, HG00131, NA20535, HG00160, NA11918, NA20346, NA10847, HG01389, HG01197, HG00657, NA18516, HG01365, HG00577, NA19453, NA12828, NA18517, HG00428, HG01174, NA19920, HG01350, HG00139, NA19144, NA12058, NA20539, HG00683, HG00111, HG00187, HG00404, NA07051, HG00280, NA19682, HG00177, HG00319, HG00737, HG00253, HG00699, NA20755, NA12287, NA20521, NA18943, NA19761, HG01171, NA18596, NA18868, HG00269, NA12414, HG01107, HG00158, HG01148, NA11919, HG00421, NA12004, HG00308, NA18635, NA18536, NA19675, HG00096, HG01061, NA20530, HG00372, HG00692, HG01183, HG01495, NA18636, HG01124, NA18856, NA19083, HG00141, NA12273, HG00315, HG00330, NA12761, NA18638, HG00149, HG00338, NA11933, HG00150, NA18609, NA18547, HG00125, HG00258, HG01360, NA11831, NA12829, NA18976, HG01136, NA11894, NA12400, NA18637, NA18973, NA11995, NA19773, NA19681, HG00254, NA19663, HG00284, NA12830, HG00357, NA18634, NA19700, HG00237, HG00343, NA12144, HG00584, NA19684, HG00133, NA19728, HG00114, NA12751, NA19676, HG00373, NA19725, HG00159, HG00620, HG01111, NA19786, NA19080, NA19153, HG00124, NA12716, NA18537, HG01465, NA19759, NA12892, NA18633, NA20291, HG00653, HG01191, NA18572, NA19703, HG00268, HG00640, HG01066, NA19373, NA12348, NA19716, NA18923, NA20795, HG00559, NA19005, NA19119, NA19657, NA20540, HG01073, NA18558, HG00239, NA18941, HG00265, HG00501, HG00273, HG00282, HG01356, NA19704, NA18564, NA18942, NA18961, HG00277, HG00103, HG01351, NA20797, HG00513, HG00524, HG01494, NA20582, NA19720, HG00512, HG00534, NA18562, HG01060, NA18579, NA18974, NA18985, NA19789, HG00236, HG00589, NA18945, NA19777, NA18543, NA12891, NA18987, NA10851, NA18582, NA18999, NA20581, HG00427, NA18597, HG00590, NA18552, NA19138, NA19729, NA20756, HG00443, NA18909, NA19078, HG01334, NA12749, HG00650, NA18538, NA18565, NA20518, HG00138, HG00663, NA19116, NA18989, NA19747, NA18577, HG00654, NA12878, NA20507, NA18548, NA11830, NA12003, NA19064, HG00123, NA19749, HG00281, HG00285, NA18944, NA11993, NA19717, HG00656, NA12842, HG00142, HG01366, NA18499, NA20543, NA18610, HG01251, HG00367, NA12045, HG00693, NA18611, HG00566, HG01125, NA11829, NA19756, HG01177, HG00320, HG00275, HG00324, HG00625, NA12717, NA20528, HG00641, NA18574, HG00183, HG00473, NA18981, HG00684, HG00143, HG00476, NA20502, HG00671, NA19087, HG00272, NA19468, HG00702, NA19200, NA19750, HG00278, NA19661, HG00136, NA18980, HG00312, HG00323, NA12827, HG01515, NA12718, HG00313, NA19445, NA19625, HG00152, HG01518, NA12249, HG00318, HG00536, HG00607, NA12748, NA11930, NA07037, NA20278, HG01072, HG01052, HG01075, NA18561, NA20506, NA18933, HG01055, HG00369, NA18612, HG00731, HG00596, NA19783, HG00310, NA18550, NA18570, HG00261, HG00707, NA18511, NA20299, NA12340, NA20294, HG01492, HG00375, HG00173, HG00326, NA18542, NA19782, HG00270, HG00190, NA19210, HG00701, NA12776, HG01461, NA19648, HG00651, NA19004, NA19678, HG00557, HG00366, NA11893, HG00146, NA19780, NA12044, NA19147, HG00188, HG00479, NA19654, HG01521, HG00256, HG00543, HG00154, NA18559, HG00321, NA20585, NA18912, NA18624, HG01140, NA19652, NA12383, NA11994, HG00140, NA12155, NA18576, HG00610
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662299
Frequency
Sample Size1151
Observed Gain0
Observed Loss371
Observed Complex0
Frequencyn/a


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