A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674222



Internal ID9593641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82099411..82099748hg38UCSC Ensembl
chr7:81728727..81729064hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5838114, essv5908106, essv5960604, essv6519015, essv5526659, essv5978616, essv6410202, essv6143465, essv6017548, essv6322786, essv6346247, essv5959672, essv5752359, essv6460755, essv5716513, essv5831979, essv6533481, essv6088884, essv6270911, essv6012666, essv6066499, essv5790321, essv5459036, essv6271781, essv5558843, essv6070919, essv5959182, essv5683512, essv6370539, essv6356358, essv6106804, essv6130902, essv5621804, essv5888247, essv6557487, essv5600584, essv5892335, essv6271449, essv6559766, essv5786715, essv5739060, essv6578032, essv5799573, essv6574827, essv6550700, essv5534503, essv6029687, essv5702041, essv5631960, essv5622388, essv5487536, essv6279261, essv5883311, essv5499766, essv5545415, essv6102686, essv6423666, essv6353346, essv6337484, essv6394311, essv5501695, essv6070411, essv5536556, essv6059917, essv6199956, essv6449117, essv5721564, essv6248765, essv6059167, essv5904843, essv6237714, essv6355969, essv6441553, essv5548915, essv5745096, essv5396194, essv5908713, essv6454936, essv5657850, essv5810451, essv6578866, essv6049297, essv5595182, essv6017472, essv5974386, essv5592094, essv5679097, essv6111221, essv6359560, essv6027135, essv5774732, essv5994297, essv5758559, essv6039950, essv5913947, essv5695401, essv6232614, essv5677167, essv5882043, essv6291095, essv6413755, essv6293701, essv5952919, essv6303428, essv6017760, essv5470299, essv6029938, essv5830005, essv6046752, essv5840932, essv5719612, essv5474187, essv5617983, essv5615161, essv6250619, essv5515670, essv6152317, essv6222016, essv5758203, essv6258426, essv6401907, essv5848570, essv6030547, essv5526108, essv6131489, essv5710005, essv5777984, essv5698913, essv5784961, essv6082064, essv6157815, essv5714172, essv5604749, essv6340890, essv5788373, essv6215888, essv6031982, essv6028236, essv5969857, essv5782715, essv6062536, essv6322693, essv6399484, essv6114533, essv6041587, essv5716445, essv5617439, essv6398242, essv5820165, essv6048349, essv6149833, essv6443388, essv6224394, essv5718212, essv6579923, essv6401891, essv5749602, essv5758738, essv5859511, essv6592916, essv5494760, essv5630811, essv5952042, essv5409210, essv6021292, essv6183916, essv6571595, essv5933023, essv5804692, essv6555917, essv6448258, essv6235915, essv5718792, essv5612980, essv6460712, essv6570583, essv6455002, essv6430498, essv6323542, essv5479728, essv6450280, essv6021150, essv5962372, essv5987050, essv5999990, essv5477950, essv6251206, essv5596230, essv6285560, essv6231636, essv5588023, essv5579915, essv6329570, essv6093477, essv5570739, essv6070709, essv5524596, essv5700198, essv6234291, essv5919869, essv6105865, essv6089759, essv6580070, essv6534846, essv5822650, essv6239579, essv6514489, essv6139284, essv6207086, essv6152085, essv6382241, essv5600480, essv5873768, essv6340015, essv6049953, essv5930990, essv5413325, essv6091879, essv5856772, essv5698908, essv5984743, essv6366226, essv6275991, essv5605417, essv6213012, essv5930402, essv5584708, essv6381048, essv6553305, essv6556188, essv5566623, essv6152659, essv5917544, essv6367025, essv5536575, essv5563361, essv6199234, essv5763477, essv5713202, essv5817549, essv6002042, essv6112751, essv6396366, essv5450817, essv6315567, essv5926577, essv6100239, essv5600009, essv5714270, essv5957791, essv6448651, essv5913242, essv5729655, essv5476218, essv5876744, essv6559308, essv5749200, essv5933969, essv5597674, essv6424097, essv5616982, essv5468226, essv5834917, essv6266459, essv6524401, essv5833324, essv5502011, essv5577288, essv6550383, essv5779948, essv6548867, essv6055668, essv5558929, essv6503985, essv6028744, essv6356286, essv6577108, essv5593967, essv5789029, essv6301505, essv6188840, essv6316091, essv5532947, essv6100786, essv6448027, essv5413725, essv5914417, essv6367027, essv5921480, essv6433852, essv6557557, essv6408276, essv6583523, essv5493267, essv5958825, essv5631879, essv5724135, essv6346576, essv5771738, essv5845782, essv5422834, essv6439497, essv5861905, essv5892389, essv6054773, essv6342085, essv6366839, essv6368719, essv6581555, essv5641736, essv6069372, essv6455455, essv5539876, essv6238277, essv6591656, essv5549367, essv5763034, essv5993652, essv6481317, essv5915803, essv6042343, essv5436035, essv6126393, essv6174284, essv6140800, essv5692616, essv6500066, essv5438454, essv6583469, essv5920778, essv5901596, essv5845358, essv6145082, essv5483943, essv6470811, essv6343073, essv5624709, essv5746332, essv6051714, essv5900523, essv6395998, essv6491760, essv6304329, essv6579846, essv5536038, essv6295839, essv6587400, essv5470799, essv5693354, essv6375796, essv5477486, essv6473126, essv6497960, essv6016482, essv6313219, essv5723367, essv6463202, essv5964439, essv6323750, essv5829581, essv6156391, essv5957380, essv5647450, essv5408379, essv6125732, essv6228434, essv6499204, essv6533869, essv5827728, essv6366604, essv6548389, essv5838547, essv5677480, essv6238190, essv5921747, essv5753467, essv5821483, essv5486167, essv5924050, essv5827783, essv5663513, essv6163122, essv5483763, essv5617054, essv5675183, essv5739147, essv6133481, essv6567436, essv5886115, essv6345227, essv6242751, essv6439681, essv6073284, essv6349265, essv5989396, essv6325923, essv5662289, essv5613027, essv5839888, essv6197566, essv6404347, essv5680138, essv6130766, essv6162258, essv6208892, essv5602351, essv5425259, essv5970918, essv5800066, essv6366967, essv6294103, essv6580933, essv5568344, essv5648361, essv5676383, essv5743156, essv5407219, essv6548685, essv6549006, essv6461328, essv6147538, essv6203215, essv5602925, essv5960709, essv6458871, essv5705898, essv6506396, essv6152603, essv6162124, essv5978764, essv5599333, essv5886594, essv5745642, essv6271460, essv5834025, essv5926654, essv5558288, essv6463051, essv6259545, essv6027137, essv5962654
SamplesHG00180, NA18622, NA12776, NA20509, NA20588, NA19394, NA18502, NA19701, HG00542, HG00442, NA20529, NA12842, HG01462, NA19909, NA18621, HG00142, NA18947, NA12286, NA20508, NA19664, NA18861, NA18508, HG00559, NA19399, NA12273, NA12843, HG00257, HG00315, HG00151, NA20752, HG00244, NA20294, NA18504, NA19684, NA19377, NA18530, HG00737, NA18616, HG01518, NA19443, NA19920, NA18633, HG00261, NA20771, NA12399, HG00693, NA18988, HG00337, HG00663, NA20814, NA07346, NA18563, NA19373, HG01350, NA19379, NA18519, HG00122, HG01351, NA19678, NA20774, HG01168, NA18923, NA18567, NA18558, NA18547, HG01492, NA18618, NA18916, NA18574, NA07048, NA11918, NA07347, NA18582, NA18571, HG01365, HG00185, NA19904, HG00243, NA20291, HG00512, HG00281, HG00139, NA12275, HG01069, NA19720, HG00148, NA12156, HG01519, NA20812, HG00325, HG00232, NA11994, NA19235, HG00705, NA19722, HG00160, NA18990, HG01198, NA19239, NA18557, NA18985, HG01133, HG00326, HG00323, HG00253, NA19789, NA20755, NA18539, NA20753, HG00137, HG00154, NA18951, NA20535, HG00443, HG00268, HG00266, HG01171, HG00282, NA19056, HG00557, HG00245, NA18933, HG00732, HG00657, HG00556, HG00275, NA18871, NA18572, HG01149, NA18948, NA18534, HG00239, HG00692, NA19064, NA18548, NA18907, HG01047, NA20525, NA19654, HG01102, HG00324, HG00284, NA18573, NA11919, HG00651, HG00250, NA19084, HG00404, HG00479, HG00331, HG00684, NA18912, HG00140, HG00146, NA19682, NA18523, HG00463, NA19469, NA19395, NA18570, HG00126, NA19625, NA18541, NA12043, NA18953, HG01148, HG00258, NA19652, HG00254, NA19390, HG00336, HG00265, NA19256, NA18517, HG00625, NA19712, HG00353, NA19072, NA12272, NA19010, HG01174, NA20527, HG01375, HG00473, NA20778, HG00237, NA19679, NA19428, HG01137, HG00116, NA19083, NA18943, NA20281, NA19360, NA19783, NA12763, HG00662, HG00418, NA18610, HG01489, HG00620, HG00339, NA18501, HG00614, NA19223, NA19779, HG00342, NA19716, NA20510, NA18636, NA18609, NA18873, HG00112, NA11843, NA20758, NA19116, NA19080, NA20826, NA19780, NA19711, NA18983, HG00377, HG00274, NA20503, HG00595, NA19129, HG01125, HG00628, HG00171, NA12006, NA18623, NA19063, NA20754, NA19074, NA18577, NA20772, NA19676, NA18620, HG00593, HG00626, HG00403, HG00096, HG01441, NA11830, HG01521, HG01098, NA20543, NA19055, HG00249, NA11995, HG00361, HG01359, HG00524, HG01052, NA18561, NA19704, HG01188, NA20531, NA18599, NA18917, NA18603, NA12045, NA18486, NA19819, NA18596, NA18606, HG00179, HG00150, NA19190, NA12155, HG00327, NA19374, NA19746, NA19660, NA19076, NA18944, NA18550, HG01366, HG01070, HG00501, NA19382, NA18489, NA19728, NA19448, HG01488, HG00702, HG00689, HG00448, NA19723, NA18982, NA19198, NA20317, HG00330, HG00634, HG00736, NA11992, HG00346, HG01354, NA20540, NA19054, HG00369, NA18498, NA19782, NA19681, NA18964, HG00590, NA18611, HG00277, HG01067, HG00683, NA18874, HG00106, NA06984, HG01170, HG01495, HG00262, NA19719, NA19137, HG01072, NA20340, NA18617, HG00422, HG01176, HG01440, HG00182, NA19002, NA20811, NA19901, NA19725, NA19189, HG00338, HG00159, NA12828, NA18908, HG00419, HG00264, HG00464, HG00108, HG00260, NA19007, NA11831, NA10847, HG01353, HG00543, HG00313, NA18544, HG00629, NA19657, HG01187, NA19707, NA20524, HG01384, HG00328, NA12342, NA19077, NA12003, NA19347, HG00653, HG00577, NA18956, HG00701, NA19391, HG00475, NA18516, HG00436, HG00320, HG00584, NA18637, HG00500, NA18630, HG00708, HG00635, NA18566, HG01094, HG01073, HG00273, NA19655, NA12892, HG00613, HG00321, NA12827, NA19257, NA19225, NA18536, NA18945, HG01204, NA18576, NA18546, NA18608, NA19685, HG00476, NA20522, NA20801, NA12716, NA18535, NA19321, NA18961, NA18952, NA18559, HG00366, HG00375, HG00357, NA19732, HG01253, NA19435, HG00638, NA19240, NA12046, HG01494, NA19786, NA20516, HG01108, NA20803, HG00256, NA19085, HG00269, HG00125, NA19376, HG00578, NA20582, NA19060, HG00656, HG01055, HG00174, HG00123, HG00131, NA19726, HG00343, NA20528, NA18552, HG00372, HG01377, HG00472, NA07056, NA18505, HG01378, NA19755, NA19004, NA18488, NA19758, HG00345
Known GenesCACNA2D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674222
Frequency
Sample Size1151
Observed Gain0
Observed Loss441
Observed Complex0
Frequencyn/a


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