A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667437



Internal ID9586856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147186864..147187077hg38UCSC Ensembl
chr7:146883956..146884169hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38214
hg19214
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667437
Frequency
Sample Size1151
Observed Gain0
Observed Loss288
Observed Complex0
Frequencyn/a


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