A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2667437

Internal ID9586856
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147186864..147187077hg38UCSC Ensembl
chr7:146883956..146884169hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6593760, essv6519159, essv5551197, essv6533813, essv5647230, essv5737433, essv5599630, essv6414290, essv6162679, essv5641730, essv6485595, essv6284070, essv5920989, essv5514735, essv6434722, essv5396124, essv6500963, essv5671996, essv5989213, essv5527612, essv6361644, essv6328169, essv5696999, essv5597100, essv6190971, essv5421463, essv6175847, essv5665276, essv5429327, essv6145429, essv5800017, essv6300714, essv5878145, essv5887084, essv5719133, essv6525402, essv5793804, essv6544522, essv6181824, essv5971010, essv6580774, essv5850603, essv5860614, essv6278201, essv6452115, essv5401291, essv6224864, essv6367335, essv5552945, essv6383664, essv6139231, essv6356049, essv6492710, essv6212810, essv6154905, essv5839625, essv6459600, essv5468826, essv6472538, essv5414932, essv6089541, essv6039367, essv6457246, essv6273724, essv5740754, essv5790208, essv6371042, essv6214839, essv5760001, essv5837680, essv5668014, essv6023444, essv5443712, essv6040268, essv5741953, essv6239970, essv5506272, essv6425266, essv6167234, essv5807050, essv6426003, essv5719351, essv5764795, essv5617728, essv5921048, essv6497798, essv5824201, essv5645086, essv5917556, essv6489786, essv6554797, essv6358258, essv5999389, essv5515202, essv6040093, essv5775279, essv5427963, essv6006940, essv6100460, essv6420819, essv6318520, essv5419239, essv5823845, essv5779104, essv6523141, essv6261380, essv5675519, essv6469835, essv5413610, essv6413471, essv6406359, essv6476985, essv5618083, essv5557640, essv5738006, essv5752566, essv5622531, essv6026127, essv6511350, essv6170177, essv5436559, essv6111371, essv5755416, essv5521425, essv5707445, essv5596276, essv5425500, essv6109169, essv5546328, essv6104314, essv6137369, essv5895078, essv6409157, essv5501473, essv5651134, essv5533041, essv6369041, essv6513696, essv6488964, essv6092377, essv6556783, essv5567345, essv5592123, essv6321520, essv6522720, essv6595789, essv6144323, essv6362888, essv5955372, essv6470553, essv5961912, essv6510883, essv6189463, essv6065731, essv6364643, essv5467497, essv6462826, essv6234167, essv5729442, essv6255661, essv6165476, essv6033375, essv6064418, essv6039811, essv6093779, essv5925417, essv6391461, essv5629825, essv6450802, essv6423091, essv5752468, essv5918817, essv6455082, essv6095458, essv5912457, essv6247679, essv6091964, essv6412903, essv6339493, essv6353833, essv6088326, essv5997542, essv6075728, essv6043527, essv6077034, essv5516465, essv5840765, essv5574288, essv6207794, essv5635802, essv6003413, essv6474634, essv5750662, essv5679553, essv5593660, essv6021916, essv5433716, essv6338033, essv5428528, essv6362165, essv6477090, essv6091991, essv5906134, essv6090573, essv6441069, essv6317109, essv5527016, essv6112354, essv6098290, essv6092815, essv6033502, essv6121799, essv6328045, essv5486304, essv6102462, essv5649831, essv6396387, essv6455342, essv6402276, essv6378974, essv5733467, essv5858967, essv6294765, essv6375433, essv5885393, essv5740920, essv6160570, essv5714984, essv6364103, essv6324065, essv6099932, essv5649629, essv6011738, essv5451921, essv5978152, essv5542437, essv5658903, essv6161725, essv5454910, essv6057696, essv5956206, essv6264123, essv6583561, essv5534491, essv5953323, essv5572763, essv5531921, essv5584518, essv6567303, essv5982156, essv5511681, essv6595529, essv6423999, essv5854559, essv6584441, essv6398735, essv6113334, essv6371205, essv6199622, essv5445497, essv6190862, essv5768045, essv5607817, essv6528445, essv6537539, essv6506041, essv6534406, essv6474483, essv6516637, essv5541372, essv5776454, essv5911240, essv6158714, essv6335615, essv5751979, essv5405210, essv5538037, essv5880976, essv6366954, essv6134532, essv6323005, essv6009915, essv5479210, essv5721496, essv6176696, essv6233146, essv5641291, essv6039268
SamplesHG01441, NA19312, NA12154, HG00252, NA07347, NA20787, NA18520, NA20771, HG00182, HG00619, NA18534, NA18530, HG00328, NA19114, HG00705, HG00437, HG00500, HG01173, HG01083, HG00274, NA12347, HG00131, NA20544, NA20796, HG00565, NA20508, HG00449, NA11918, HG00310, NA20299, HG01079, NA12340, NA18603, NA19670, HG00657, NA11931, HG01365, HG00117, NA18953, NA12828, NA20529, HG00475, NA18947, HG00375, HG00542, HG00326, NA18608, NA20778, NA20786, NA19782, HG01350, NA12005, HG00122, NA18546, HG00683, HG00111, HG01204, NA12776, HG00187, NA07051, NA19648, HG00335, HG00557, HG01101, HG01168, NA18965, HG00253, NA12044, NA20803, NA18943, HG01171, NA18626, NA18596, NA18628, HG00342, NA12414, HG00154, HG00321, HG01550, NA20761, HG00158, NA11919, NA12763, HG00346, NA18624, HG00250, NA20819, HG00593, NA12282, HG01375, HG00421, NA12004, NA12383, NA18566, HG00337, NA18635, NA19068, NA19917, NA20811, HG00140, NA18576, NA18960, NA18563, HG01048, HG01061, NA20530, NA20783, NA20807, NA18636, HG01124, NA18592, NA19088, HG00628, HG00315, NA12761, NA18638, HG00338, NA18959, HG00150, NA20765, HG00258, NA11843, NA11831, NA12829, NA18976, HG01113, NA11894, NA19075, NA20520, HG00264, NA11995, NA18916, NA19658, NA18593, NA18982, HG00276, HG00284, NA12777, NA12234, HG00237, HG00343, NA12144, NA12751, NA12006, NA20769, HG00373, NA19080, HG00124, NA18537, HG01465, NA19759, NA12892, NA19372, HG01516, NA18633, HG01191, NA20536, HG00268, NA12778, HG00325, NA12348, HG00185, NA20826, HG00260, HG00560, NA18558, NA18977, NA18941, HG00501, HG00282, HG01170, NA19704, NA20818, HG00478, NA18564, NA20828, HG01080, NA20815, HG00740, NA18613, HG00524, NA20542, NA20582, NA19720, HG00246, NA12283, HG01383, NA18974, NA18985, NA19789, HG00236, NA18606, NA12891, NA18987, NA12890, NA18999, NA20525, NA20581, NA19921, HG01095, NA18567, NA12749, NA06984, NA18538, NA12413, NA18565, NA20518, NA12889, NA18631, HG00118, NA18544, HG00448, NA18602, NA19818, HG00654, NA12878, NA20507, NA20513, NA18548, NA20317, NA11992, NA20810, HG00123, HG00281, HG00285, NA20812, HG00656, NA12546, NA19655, NA18499, NA18571, HG00422, NA20758, NA12045, NA20792, HG01125, NA11829, NA19756, HG01177, NA19171, NA20768, HG00119, HG00320, HG00324, HG00690, NA18549, HG00183, HG00442, HG01374, NA18981, NA20804, NA20806, HG00143, NA19758, HG00476, NA20517, HG00272, HG00345, HG00704, NA19750, HG00271, NA20519, NA19779, HG00136, NA19065, NA07000, HG01354, HG00312, HG01198, HG00323, NA18964, HG01515, HG00313, HG00734, HG00318, HG00607, NA12750, NA12748, NA07037, NA20522, NA20503, NA20526, NA20785, NA18952, HG00145, NA07056, NA20516, NA18612
Known GenesCNTNAP2
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2667437
Sample Size1151
Observed Gain0
Observed Loss288
Observed Complex0

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