A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662489



Internal ID9581908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1754845..1755160hg38UCSC Ensembl
chr12:1864011..1864326hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6206097, essv6002325, essv5739900, essv6015598, essv5818558, essv5837310, essv6239337, essv6347524, essv6488133, essv6590666, essv5753944, essv6417154, essv5400601, essv6258051, essv5445014, essv5670437, essv6462682, essv5504792, essv5962331, essv6150094, essv6584240, essv5682402, essv6537769, essv5860991, essv5876717, essv6240936, essv5600951, essv6318415, essv6327943, essv5871434, essv5723530, essv5891769, essv5423073, essv5521921, essv6337586, essv5410969, essv5480990, essv6415401, essv6527162, essv6004920, essv6527890, essv6400126, essv5605657, essv5847160, essv6234702, essv6372220, essv6236717, essv6026031, essv6285106, essv6390445, essv5819514, essv5874575, essv6349294, essv5437013, essv6596616, essv5613385, essv5947239, essv6347195, essv6533833, essv5919825, essv6302176, essv6450355, essv6227810, essv5503364, essv5991153, essv6573334, essv6097453, essv5650371, essv5945239, essv5982740, essv5897766, essv6356490, essv5410484, essv5554577, essv5704140, essv6354108, essv6141244, essv6432167, essv6269505, essv5984669, essv6011986, essv5599311, essv5678615, essv5916491, essv6453475, essv6587807, essv6404753, essv6510133, essv5838074, essv6576256, essv5971758, essv6033845, essv6048775, essv5434607, essv5937879, essv6392790, essv5949200, essv5559003, essv5604261, essv6008594, essv5643964, essv5410095, essv5726403, essv6211492, essv5467718, essv5972804, essv5939400, essv5396967, essv5422756, essv5809318, essv6372710, essv6193109, essv6230052, essv5661375, essv5663452, essv5532377, essv5661098, essv5593648, essv6580147, essv6340909, essv5481175, essv5555237, essv5938997, essv5544042, essv6062175, essv5803338, essv5942288, essv6025917, essv6340045, essv5863468, essv5608254, essv5562881, essv6233018, essv6559226, essv5646692, essv6597670, essv5884573, essv6111323, essv5489036, essv6267322, essv6450006, essv6501164, essv5921585, essv5462351, essv6407900, essv5470738, essv5668325, essv5977367, essv6238995, essv6462732, essv6564289, essv6206525, essv6219634, essv6484401, essv5936281, essv6088513, essv6221935, essv6517536, essv5685874, essv5773750, essv5760041, essv5760371, essv6463440, essv5811648, essv6355354, essv5990094, essv6499860, essv6437551, essv6384124, essv6465465, essv5550203, essv5891883, essv6478114, essv5642195, essv5669879, essv5724479, essv5973546, essv5720948, essv6462862, essv5813374, essv6138624, essv5453386, essv5482246, essv5615773, essv5672607, essv5991496, essv6183360, essv5434393, essv5481325, essv5694619, essv6348593, essv5773364, essv5785578, essv5701758, essv6066264, essv6285771, essv6389247, essv6407487, essv5547665, essv5400901, essv6129938, essv5415192, essv5440677, essv5637400, essv5820854, essv5878248, essv5504374, essv5855562, essv6332040, essv6497172, essv5727483, essv5849848, essv5863783, essv6574534, essv6219878, essv5610263, essv6278746, essv6118060, essv5629828, essv5436677, essv5772401, essv6235110, essv6346010, essv5418090, essv5454933, essv5529138, essv5747266, essv5761155, essv5533793, essv5486790, essv6452514, essv5419654, essv5755971, essv5503643, essv6570423, essv6535701, essv5462126, essv6485386, essv5600934, essv5723258, essv6541464, essv5971815, essv6079338, essv6154414, essv6155307, essv6166143, essv6419691, essv5418296, essv5854195, essv6008390, essv6194530, essv6399160, essv6590274, essv5436930, essv5955664, essv6087003, essv6223092, essv6476739, essv5836127, essv6245425, essv5740958, essv6307924, essv5902994, essv6228868, essv6542703, essv6588003, essv5641447, essv5762381, essv6199624, essv6142530, essv6332184, essv6244722, essv6399059, essv6039680, essv6416897, essv5914388, essv6256779, essv6586275, essv6343273, essv5768308, essv5772992, essv5600388, essv6153281, essv6320342, essv6353995, essv5426878, essv5605858, essv6474396, essv5981071, essv6203892, essv6284613, essv6316082, essv6446213, essv6377437, essv6435607, essv6458094, essv5992179, essv6400330, essv6169565, essv6515430, essv6531064, essv6561640, essv6363112, essv6481144, essv5545644, essv6455856, essv5871572, essv6293460, essv6478335, essv5577474, essv5807644, essv5829369, essv6592203, essv6495860, essv5641091, essv5712068, essv5732656, essv5801148, essv6262608, essv5980713, essv5591248, essv6512611, essv5434030, essv5445410, essv6189545, essv5600727, essv5657333, essv5719328, essv5655029, essv6162910, essv6263373, essv5424957, essv5859113, essv6505196, essv5732833, essv6250897, essv5613714, essv6072586, essv6116032, essv5472349, essv6240732, essv6045545, essv6125857, essv6382874, essv6088380, essv6511747, essv5612885, essv5954575, essv6221977, essv5899569, essv5805314, essv6279793, essv5716449, essv5880388, essv6358437, essv6452701, essv5900620, essv5879074, essv5471025, essv5482917, essv6434082, essv6584933, essv5532012, essv6377574, essv5414848, essv6276512, essv5428004, essv6210682, essv6183840, essv6140654, essv6243235, essv6583644, essv5747101, essv6556742, essv6182685, essv6380979, essv5678353, essv5429004, essv5630089, essv6405881, essv6367698, essv6000563, essv6366963, essv5471327, essv6096278, essv6544009, essv5427271, essv6584807, essv5907035, essv5603495, essv5654341, essv5723684, essv5821456, essv6589127, essv5929456, essv6021718, essv5884850, essv6069565, essv6380644, essv6049230, essv6493671, essv6594440, essv5547082, essv5945115, essv6121490, essv5571423, essv5840568, essv5844189, essv6460147, essv6103650, essv6466440, essv6586455, essv6307279, essv5496184, essv5604155, essv6046640, essv5817754, essv5592302, essv5679248, essv5520976, essv5663893, essv5808506, essv5973399, essv6215523, essv5628788, essv5730665, essv5898200, essv5474197
SamplesHG01357, HG00613, NA11881, NA18621, HG00309, HG00157, NA12154, HG00252, NA18605, HG01440, NA07347, NA20787, HG00257, NA20771, NA18534, NA18530, HG00418, HG01519, NA12286, NA19819, NA12342, HG00328, NA11920, HG00171, NA20510, NA18501, HG00131, NA20796, HG00565, HG00155, NA20531, HG01079, NA18545, NA18603, NA20759, HG00657, HG01051, HG01365, NA19788, HG01082, NA18953, HG01488, NA12828, NA18517, HG00428, HG00475, HG00542, HG01174, HG00368, HG00148, HG01350, HG00139, NA18489, NA18541, HG00683, NA20805, HG00111, HG00334, NA18963, HG00187, NA07051, NA19651, HG00280, HG00335, HG01101, HG00319, HG00699, NA18557, NA20521, NA20803, NA18943, NA18950, NA19761, HG01171, HG00353, NA18596, NA20340, HG00554, HG00592, HG01107, HG00158, NA20505, NA11919, NA12763, NA19085, HG00346, HG01384, NA18967, HG01375, HG00308, HG01378, NA18635, NA18536, NA19675, NA18622, HG00259, NA18623, NA19471, HG01048, NA18617, NA18990, HG00692, NA18636, HG01124, HG00315, NA12761, NA18956, HG00149, HG00338, NA18959, HG01360, NA11843, NA11894, NA12400, NA18637, NA18916, NA18593, HG00276, HG00343, NA12144, HG00662, NA19000, NA19055, NA20769, HG01437, HG00233, HG01516, HG00653, NA20760, NA20348, HG00325, NA12348, NA19716, NA20790, HG00185, NA18968, HG00263, NA19005, HG00176, HG00501, HG00672, HG01069, HG00249, NA20818, HG00478, NA11892, NA18961, HG00116, HG00277, NA20774, HG00103, HG01080, NA19332, NA20815, HG00740, HG00513, HG00524, NA19720, NA18988, HG00329, HG00512, HG00534, HG01070, NA20766, HG00246, NA12283, NA18562, NA19074, HG00377, HG00236, HG00589, NA18606, NA19777, HG00120, NA12891, NA18619, NA18987, NA10851, NA18582, NA20525, HG00427, NA18597, HG00590, HG00595, NA18552, NA19376, NA20534, NA12272, NA18599, NA18909, NA18567, HG01334, NA20799, NA18538, NA18565, NA19009, HG00138, NA12156, NA12889, NA19116, NA18560, NA18989, HG00580, NA19719, NA18971, HG00448, NA18577, HG00654, HG01390, NA12878, NA19452, NA20507, HG00530, NA18548, NA11830, NA12003, NA19770, NA19749, HG00281, HG00285, NA18944, NA19063, NA11993, NA12399, HG00656, NA12546, NA19655, NA18499, HG00422, NA19371, NA20543, HG00708, HG01251, NA12045, NA19315, NA20792, HG00693, NA11932, NA18611, HG01125, NA11829, HG01177, NA20768, HG00320, HG01498, HG00275, HG00324, HG00690, NA12717, NA20528, NA18574, HG00183, HG00442, HG01374, HG00473, HG00137, HG01102, HG01462, HG01489, NA18908, NA20804, HG00626, HG00684, NA18615, HG00143, NA19758, HG00336, HG00476, NA20772, HG00702, HG00704, NA18555, NA19385, HG00271, HG00136, HG00126, NA07000, NA19746, HG00531, HG01067, HG01354, NA18553, HG00312, HG00327, HG00361, HG00323, NA12827, NA18964, HG01515, NA12043, NA19152, NA19625, HG00152, HG01359, NA12249, NA19436, HG00607, NA12750, NA07037, NA20522, NA20278, NA20809, HG01250, HG00344, HG01052, NA18561, NA20506, HG00127, HG01055, NA07056, HG00369, HG00245, HG00449, NA19003, NA19072, HG00707, NA18511, NA06989, NA12340, NA20775, NA19670, NA20808, NA20816, NA19010, HG00173, HG00326, HG01491, NA20778, NA20786, NA18542, HG00106, NA20588, NA12776, HG00651, NA19004, NA19678, HG00557, HG00366, HG00146, NA18965, NA19780, NA12044, HG00479, NA19654, NA20586, HG01133, HG01521, HG00256, HG00342, NA19762, NA20532, HG00115, HG00543, NA18559, NA20761, HG00179, HG00250, HG01140, NA19054, NA20819, NA12282, NA19652, NA12383, NA18566, NA19057, HG00140, NA12155, NA18576, NA07357, NA20757, NA19722, HG00610, HG00372, HG01495, NA20801, NA20807, HG00689, HG00141, HG00628, NA07048, NA18638, NA19066, HG00150, NA20765, HG00419, NA18547, HG00258, NA18976, HG01136, NA19835, HG00264, HG00254, NA19663, HG00403, NA18634, HG00237, HG00584, HG00133, NA20773, HG01497, NA12006, NA19213, HG00620, NA19153, NA19759, NA12892, NA20536, HG00268, HG01066, NA19375, NA06985, HG00629, NA18486, NA06986, NA18522, NA19238, HG01455, HG00260, HG00560, NA19713, NA19731, NA20540, NA18558, NA18977, HG00239, NA18941, HG00282, HG01356
Known GenesADIPOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662489
Frequency
Sample Size1151
Observed Gain0
Observed Loss428
Observed Complex0
Frequencyn/a


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