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 Variantsessv5758203, essv5999990, essv6366839, essv5624709, essv6500066, essv5568344, essv6066499, essv5548915, essv6197566, essv5675183, essv6162258, essv5422834, essv5438454, essv5499766, essv5698908, essv6285560, essv5595182, essv5915803, essv6130766, essv5900523, essv6448027, essv6473126, essv6188840, essv6533481, essv6514489, essv6458871, essv5861905, essv5892335, essv6042343, essv5502011, essv6028236, essv5838547, essv6343073, essv6549006, essv6581555, essv6271460, essv5845782, essv5821483, essv6089759, essv6356358, essv5597674, essv6559308, essv5933969, essv5886115, essv5822650, essv6140800, essv6370539, essv6367027, essv6340015, essv6506396, essv5779948, essv5577288, essv6401907, essv6163122, essv5621804, essv5745096, essv6577108, essv6152317, essv5493267, essv6021150, essv6304329, essv5474187, essv6423666, essv5563361, essv6342085, essv6106804, essv5952042, essv6382241, essv5957791, essv6366226, essv6534846, essv5630811, essv5536038, essv5657850, essv6102686, essv5964439, essv6145082, essv5958825, essv6408276, essv6199234, essv6460755, essv6346247, essv5647450, essv6316091, essv5978616, essv5758559, essv5752359, essv6463202, essv5763477, essv6270911, essv6303428, essv5545415, essv6174284, essv6353346, essv5930990, essv5859511, essv6059917, essv6448651, essv6091879, essv6157815, essv5834025, essv5663513, essv5483943, essv6322693, essv5839888, essv5600480, essv5477950, essv5984743, essv5978764, essv5933023, essv6055668, essv6114533, essv6460712, essv6424097, essv6325923, essv6323542, essv6250619, essv5723367, essv5749200, essv6027137, essv6215888, essv6559766, essv6322786, essv6570583, essv5838114, essv6133481, essv6162124, essv5714270, essv6463051, essv5719612, essv5827728, essv5617983, essv5677480, essv6550383, essv5596230, essv5622388, essv6499204, essv6401891, essv5676383, essv5483763, essv5919869, essv5549367, essv5753467, essv5558843, essv5515670, essv5786715, essv6404347, essv6222016, essv5588023, essv6093477, essv6301505, essv6524401, essv6054773, essv6266459, essv5921747, essv6143465, essv5926577, essv6349265, essv5888247, essv6199956, essv6070411, essv6295839, essv5993652, essv6410202, essv5413325, essv5695401, essv5746332, essv5612980, essv6208892, essv6111221, essv6497960, essv6592916, essv5926654, essv6356286, essv6130902, essv6579923, essv6583469, essv6548867, essv5921480, essv5721564, essv6126393, essv5718792, essv6346576, essv5702041, essv6183916, essv5930402, essv6294103, essv5536556, essv6213012, essv6112751, essv5526659, essv5962372, essv6430498, essv6002042, essv5833324, essv6235915, essv6207086, essv5476218, essv5994297, essv6340890, essv5526108, essv5700198, essv5800066, essv5600009, essv5396194, essv5974386, essv6355969, essv5924050, essv5479728, essv5771738, essv5693354, essv5716445, essv5804692, essv6337484, essv5486167, essv5820165, essv5987050, essv6271449, essv5501695, essv5566623, essv6470811, essv6548685, essv5470799, essv6234291, essv5648361, essv6454936, essv6413755, essv5830005, essv6591656, essv6368719, essv6100239, essv5829581, essv6313219, essv5477486, essv5468226, essv6556188, essv6580933, essv6029938, essv5799573, essv5739060, essv6449117, essv6051714, essv6455002, essv5470299, essv6152659, essv5631879, essv6152603, essv6017760, essv6394311, essv5679097, essv5602925, essv5613027, essv6125732, essv6046752, essv6248765, essv6021292, essv6271781, essv6049953, essv5913947, essv6557487, essv6455455, essv6461328, essv6070709, essv6550700, essv5782715, essv5913242, essv6578032, essv6441553, essv6231636, essv5710005, essv5718212, essv5960709, essv5593967, essv5739147, essv5957380, essv6232614, essv5524596, essv6574827, essv6049297, essv5408379, essv5745642, essv5602351, essv5600584, essv5959182, essv6291095, essv5817549, essv6439497, essv6139284, essv5892389, essv6027135, essv6548389, essv6293701, essv6029687, essv5539876, essv6224394, essv5952919, essv5989396, essv6533869, essv5784961, essv6329570, essv6396366, essv6567436, essv5604749, essv5969857, essv5714172, essv6031982, essv6251206, essv5834917, essv5617439, essv6578866, essv6237714, essv6059167, essv6279261, essv5616982, essv5605417, essv6100786, essv5840932, essv5698913, essv5729655, essv6073284, essv5494760, essv5425259, essv5631960, essv6017548, essv5749602, essv6258426, essv6375796, essv6448258, essv6587400, essv5758738, essv6039950, essv5763034, essv6366604, essv5532947, essv6399484, essv5692616, essv5743156, essv6028744, essv5487536, essv6315567, essv5716513, essv5848570, essv6450280, essv6152085, essv5558929, essv6366967, essv5886594, essv6323750, essv6088884, essv5959672, essv6238190, essv6062536, essv6555917, essv6070919, essv6583523, essv5831979, essv6239579, essv6228434, essv5450817, essv6571595, essv6433852, essv5970918, essv6105865, essv5917544, essv5683512, essv6359560, essv5705898, essv5615161, essv5901596, essv5920778, essv6553305, essv6381048, essv5960604, essv5810451, essv5617054, essv5436035, essv5413725, essv6439681, essv5777984, essv6491760, essv6048349, essv5873768, essv5534503, essv6398242, essv5677167, essv6131489, essv5774732, essv5882043, essv6156391, essv5876744, essv5584708, essv5904843, essv5845358, essv5827783, essv5407219, essv5789029, essv6481317, essv6580070, essv6203215, essv5883311, essv6345227, essv6503985, essv6443388, essv5713202, essv6149833, essv6017472, essv6242751, essv5790321, essv5592094, essv5908106, essv5856772, essv5409210, essv5724135, essv6030547, essv6395998, essv6238277, essv5459036, essv5788373, essv6579846, essv6041587, essv6016482, essv5579915, essv6275991, essv5914417, essv6069372, essv6367025, essv5680138, essv6557557, essv5662289, essv6082064, essv5599333, essv5641736, essv5536575, essv6012666, essv5962654, essv5570739, essv5908713, essv6519015, essv6147538, essv6259545, essv5558288
SamplesHG00613, HG01441, NA18621, HG01440, NA07347, NA19712, HG00257, NA18616, NA20771, HG00182, NA19904, NA18951, NA20527, NA18534, HG01353, NA18530, NA18535, NA18630, NA18871, HG00418, HG01519, NA12286, NA19819, NA12342, HG00328, NA18523, NA20752, HG00705, HG00500, HG00171, NA20510, HG00112, HG00274, HG00464, NA18501, HG00131, NA20535, NA20531, HG00160, NA11918, NA19469, NA19223, NA19435, NA10847, NA18603, HG00463, HG00657, NA18516, HG00614, HG01365, HG00577, NA18953, HG01488, NA12828, NA18517, HG00475, NA18947, HG00542, HG01174, HG00148, NA19920, HG01350, HG00139, NA18489, NA18541, NA18546, NA19379, HG00683, NA19685, HG00404, HG01168, NA19257, NA19682, NA19701, HG00737, HG00253, NA18505, NA18557, NA20755, NA20803, NA18943, HG01171, HG00353, NA18596, NA20340, HG00269, NA19077, HG00556, HG01148, NA11919, NA12763, NA19085, HG00346, HG01384, NA19239, NA19076, HG00593, HG01375, NA19390, HG01378, NA20811, NA18536, NA18622, NA19443, HG00096, NA18623, NA18617, NA18990, HG00692, NA18636, NA19083, NA12273, HG00315, NA18956, HG00338, NA18609, HG00125, NA11843, NA11831, NA18637, HG01253, NA11995, NA18916, HG00174, HG00634, HG00243, HG00284, HG01187, HG00343, HG00662, NA19728, NA19190, NA19055, NA19360, NA19725, NA19395, NA19786, NA19080, NA07346, NA12716, NA19129, NA19189, NA18633, NA20291, HG00653, NA19374, HG00732, HG00325, NA19716, HG00185, NA20753, NA12275, NA19002, NA19664, HG00265, HG00501, HG01170, HG01069, HG00249, NA18961, HG00277, HG01351, HG00524, HG01494, NA19720, HG00377, NA19711, NA18985, NA19789, NA18945, HG01149, NA18606, HG00151, NA19235, HG01094, NA18582, NA20525, HG01137, HG00590, HG00595, NA18552, NA19376, NA12272, NA18983, HG00443, NA18599, NA18907, NA18567, NA19391, NA19723, NA06984, NA19394, HG00663, NA12156, NA19116, HG00262, NA19719, NA18544, HG00448, NA19755, NA18577, NA20509, NA18548, NA20317, NA11830, NA11992, NA12003, NA19064, HG00123, HG00281, NA18944, NA19063, NA19225, NA18917, NA12399, NA19399, NA20812, HG00656, NA12842, NA19655, HG00142, HG01366, NA18571, NA19732, HG00422, NA20543, HG00708, NA19198, HG01108, NA18610, NA20758, NA12045, HG00693, NA18611, HG01125, NA19240, HG00320, HG00275, HG00324, HG00625, NA20528, NA18574, HG00442, HG00473, HG00137, HG01102, HG01462, HG01489, NA18908, NA20524, HG00626, HG00684, HG01377, NA19758, HG00336, HG00476, NA19448, NA20772, HG00345, HG00702, NA19007, NA19779, NA18519, HG00126, NA19746, HG01067, HG01354, HG00327, HG00361, HG01198, HG00323, NA20281, NA19137, NA12827, NA18964, HG00313, NA12043, NA19625, HG01359, HG01518, NA18861, NA19321, NA20522, NA20503, HG01072, HG01052, NA18561, NA18933, HG01055, NA18952, NA07056, NA18874, NA20516, HG00369, HG00245, NA19783, HG00736, NA20508, NA19060, NA18550, NA18570, NA19072, HG00261, HG01098, NA20294, NA18948, HG01492, NA20529, NA19010, HG00375, HG00326, NA18573, NA18608, NA20778, NA19782, HG00122, HG00106, HG00701, NA20588, HG01188, HG01204, NA12776, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, HG00331, HG00146, NA18488, NA19084, NA19780, NA18873, HG00479, NA19654, HG01133, HG01521, HG00256, HG00342, HG00244, HG00266, HG00635, HG00543, HG00154, NA18559, HG00321, HG00339, NA19726, NA19428, NA18912, NA12843, HG00179, HG00250, NA18508, NA19054, HG00472, NA19652, NA18566, HG00337, NA11994, NA19660, HG00140, HG00638, NA12155, NA18576, HG00180, NA18563, NA18618, NA19722, HG00372, HG01495, NA20801, HG01047, HG00689, NA20754, HG00628, HG00330, NA07048, HG00150, HG00419, NA18547, HG00258, NA19256, HG00264, NA18982, NA19681, HG00254, NA19056, NA19679, HG00403, HG00357, HG00237, HG00584, NA19684, NA18539, NA12006, NA19676, HG00436, HG00159, HG00620, NA19377, NA12046, HG00108, NA18620, NA12892, NA18572, HG00268, NA19373, HG00629, NA18498, NA18923, NA20826, NA18486, HG00559, HG00260, NA18502, NA19657, NA20540, HG01073, NA18558, HG00239, NA19901, HG00273, HG00282, HG00232, HG01176, NA18504, NA19704, NA20814, HG00116, NA19347, NA20774, NA19909, NA20582, NA18988, HG00512, HG01070, NA19707, NA19074, NA19382
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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