A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674067



Internal ID9940172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79535992..79536311hg38UCSC Ensembl
chr7:79165308..79165627hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5641982, essv6543021, essv5737845, essv6343499, essv5488928, essv6551677, essv5825180, essv5532762, essv5993645, essv5829484, essv6317264, essv5768093, essv5972362, essv5716353, essv6222458, essv6260697, essv5813302, essv5862717, essv5802517, essv5873912, essv6316011, essv6197419, essv5506382, essv6247078, essv6321167, essv6593515, essv6574224, essv6204667, essv5570650, essv5567444, essv6051247, essv5735728, essv5997985, essv6025992, essv5777346, essv5509697, essv5986037, essv5872054, essv6333803, essv6213996, essv6165512, essv5554973, essv6520236, essv6191732, essv5622779, essv6163957, essv5866772, essv5533659, essv6326626, essv5419384, essv5737414, essv5998472, essv5990622, essv6026193, essv6550113, essv6494859, essv5463486, essv6303796, essv5893601, essv6395708, essv5661462, essv5591542, essv5596200, essv6020661, essv5729394, essv6264162, essv6202761, essv5567872, essv6019942, essv6417139, essv5537995, essv6364117, essv6210986, essv6241081, essv5568302, essv5585223, essv6019946, essv5651140, essv6091439, essv6571931, essv6483690, essv5936315, essv6339463, essv5446099, essv5901470, essv5781369, essv5554916, essv6210314, essv5453728, essv5564513, essv5473385, essv6201843, essv5576256, essv5977175, essv5741480, essv5581258, essv6493144, essv6015717, essv5939382, essv5618644, essv6582695, essv6061719, essv5588247, essv5624903, essv5958108, essv6156032, essv5764342, essv5723077, essv5810545, essv5757487, essv6225077, essv5549582, essv5677828, essv5927767, essv6133885, essv5450336, essv6187401, essv6003512, essv5814122, essv5842048, essv5430530, essv5685518, essv5844755, essv5812912, essv6351516, essv6252955, essv6460527, essv6173116, essv5709928, essv6448252, essv5857086, essv5792392, essv5826346, essv6039355, essv5419494, essv6025723, essv6190953, essv6483359, essv5720732, essv6430732, essv6213393, essv6061543, essv6238268, essv6244402, essv6533867, essv6074128, essv5557242, essv6477064, essv6472730, essv5732866, essv6300785, essv6322761, essv6385869, essv5640485, essv5529232, essv6297438, essv6133125, essv5953291, essv5739106, essv5588970, essv6393873, essv5840833, essv5990937, essv5610288, essv6221029, essv5935918, essv5576887, essv6027540, essv6016009, essv6197959, essv5822896, essv5853889, essv6300727, essv5684381, essv5850630, essv6240656, essv5705635, essv6147844, essv5507243, essv5968407, essv6597845, essv5905867, essv6446921, essv6504580, essv5832139, essv5685947, essv5576419, essv5439173, essv6332872, essv6481744, essv6535808, essv5880415, essv6170427, essv5649381, essv6059336, essv5476549, essv6055520, essv6046682, essv5417792, essv5987372, essv5685666, essv5807144, essv5907428, essv5818773, essv5867007, essv5460351, essv6184522, essv6396804, essv6086954, essv5886535, essv6227107, essv5770137, essv5745970, essv5860973, essv6147854, essv6342878, essv5407747, essv5526430, essv6569000, essv6005819, essv5851594, essv5769687, essv5965319, essv6071242, essv5801225, essv6482670, essv5595324, essv5637431, essv6376479, essv5674603, essv5697517, essv5769581, essv6144507, essv5664397, essv5593835, essv6200174, essv6041785, essv5682358, essv6173129, essv6525838, essv6324955, essv5793196, essv5924315, essv5874401, essv6420594, essv6347291, essv5549405, essv6305075, essv6530347, essv5847660, essv5477173, essv5561594, essv5691941, essv6512359, essv5414825, essv6143594, essv6480127, essv5569441, essv6196129, essv6232326, essv6051993, essv6003498, essv6319660, essv6340700, essv6089727, essv5513739, essv5671687, essv5819429, essv5659972, essv5417764, essv6252818, essv5988935, essv5595721, essv6259054, essv6461123, essv5953044, essv5691249, essv6292851, essv6152731, essv6008462, essv5940851, essv5474274, essv5966701, essv6419721, essv5572121, essv6509233, essv5642730, essv5878974, essv6511996, essv6479000, essv5963193, essv6060630, essv5653378, essv5564981, essv5687850, essv6416066, essv5831635, essv5423872, essv6469224, essv6551721, essv6511644, essv5833938, essv6338789, essv6078695, essv6546792, essv5687501, essv6176824, essv6589442, essv5785846, essv6428893, essv6069462
SamplesNA19394, NA12383, NA18502, NA12717, HG00442, HG01462, NA18947, NA19664, NA19066, NA19204, NA18861, NA18508, NA10851, NA12843, NA20512, NA19350, HG00181, NA19359, NA19355, NA18504, NA18530, NA18959, NA20517, NA19443, NA19920, NA18510, NA18602, NA18627, NA19107, NA12813, HG00663, NA19446, NA18563, NA19373, NA19171, NA19379, NA18940, NA18519, NA19319, NA19315, NA18597, NA18923, NA18558, NA18916, NA18574, NA07347, NA19904, NA20291, HG00512, HG01080, NA18868, NA11932, NA19372, NA19235, NA19207, NA19172, NA18990, NA19239, NA18867, NA19921, HG00731, HG01171, NA19070, NA19670, NA19403, HG00557, HG01095, NA20760, NA19455, NA18579, NA20519, NA18871, NA18948, NA18534, NA18981, HG00692, NA18907, NA20525, NA19654, NA19461, HG00690, NA12829, NA19453, NA18912, NA06989, NA19099, NA19452, HG00463, NA19469, NA19395, NA19625, NA18858, NA18974, NA18953, NA19375, NA19003, NA19729, HG00611, NA19440, HG00336, NA19147, NA18517, HG00625, NA19712, NA19434, NA18564, NA20815, NA19444, NA19331, NA20520, NA20527, NA19470, NA19428, NA19324, NA20281, NA19360, NA19783, HG00418, HG01489, HG00620, HG00339, NA19328, NA18501, NA06994, HG00513, NA19223, NA19468, NA19093, NA18636, NA20289, NA19102, NA18873, NA19116, NA19900, NA18983, NA20503, NA19430, NA19129, HG01111, NA19316, NA19312, NA18968, NA18623, NA19063, NA19429, NA19346, NA18487, HG00581, NA19431, NA18577, HG01060, NA19648, NA19700, NA19055, NA19397, NA18924, NA19466, NA11995, NA11829, HG01359, HG00524, HG01052, NA19332, NA18980, NA18507, NA18599, HG00306, NA18917, NA19092, NA18486, HG00699, HG00179, HG00150, NA19190, NA19098, NA18870, NA12155, HG00327, NA18967, NA19374, NA19660, NA19381, NA19076, NA19201, HG00501, NA19382, NA18489, NA19448, NA19119, NA19198, NA20317, NA19131, HG00610, HG01354, NA19313, NA19138, NA18498, NA20513, NA18964, HG00590, NA19404, HG00277, HG01067, NA19383, NA19137, NA20340, NA19371, NA19731, NA19385, NA19471, NA19317, NA19159, HG00182, HG00427, NA19901, NA19189, NA18520, HG00637, HG00338, NA19209, NA12828, NA19456, NA19445, NA18975, NA18908, NA19451, NA19200, NA20818, NA18614, HG00313, NA18544, HG00560, NA19247, NA19210, HG00629, NA19437, NA19082, NA18934, NA19077, NA19462, NA19152, NA18956, NA19236, NA18516, HG00436, NA19982, NA20126, NA18910, NA18976, NA18630, HG00619, HG00708, HG00635, HG01390, HG00273, NA19114, NA19449, NA18499, NA18856, NA18853, NA19338, NA19257, NA19225, NA19160, HG01204, NA19436, NA18608, NA19685, NA19401, NA20773, NA18909, NA19834, NA19108, NA18961, NA18952, NA18543, HG00565, NA19473, NA19435, NA19240, NA19380, NA19144, HG01494, HG00607, NA19439, NA19467, NA07037, NA19818, HG00707, HG00578, NA18971, NA19438, NA19472, HG00656, HG00174, NA20807, HG00131, NA19726, NA19213, NA18972, HG01251, HG00472, NA18505, NA18488, NA20322, HG00345, NA18511, NA18522, NA18549, NA19153, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674067
Frequency
Sample Size1151
Observed Gain0
Observed Loss311
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer