A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677287



Internal ID9596706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2058289..2060695hg38UCSC Ensembl
Outerchr4:2057718..2061365hg38UCSC Ensembl
Innerchr4:2060016..2062422hg19UCSC Ensembl
Outerchr4:2059445..2063092hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383648
hg193648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5644537, essv6405188, essv5961974, essv5585785, essv6336791, essv5626115, essv5904068, essv5528620, essv6365431, essv5980091, essv6336730, essv5603179, essv6381841, essv5963970, essv5710766, essv5431190, essv5900307, essv5638711, essv6402234, essv6570742, essv6468744, essv6119541, essv6369631, essv5609185, essv6406068, essv6115206, essv5431698, essv6022697, essv6531538, essv5521070, essv6274499, essv5623612, essv5921655, essv6082363, essv6099396, essv5447769, essv5915978, essv6369532, essv5938797, essv5994814, essv6024989, essv6080956, essv6589424, essv5668038, essv6195111, essv5605109, essv6428251, essv6087146, essv5953829, essv6030987, essv6265372, essv6394586, essv5414343, essv5487037, essv6509680, essv6504435, essv5415475, essv6134162, essv5647990, essv6412790, essv5880398, essv6280089, essv5741268, essv5810095, essv6445931, essv5982635, essv5613288, essv5605168, essv6325581, essv5493298, essv6401990, essv5598497, essv6544622, essv6175625, essv5593295, essv6444661, essv5545228, essv5457047, essv5650261, essv5940340, essv6461136, essv6154058, essv5401148, essv6509462, essv5865761, essv5713194, essv6522569, essv5756019, essv6097654, essv6424376, essv6418744, essv6549979, essv5966264, essv6195873, essv5612896, essv6397751, essv5972277, essv5430030, essv6128201, essv6395015, essv6234896, essv5835358, essv5649010, essv6030392, essv5977753, essv6348723, essv6002183, essv6414691, essv5617228, essv6467424, essv6187137, essv6415365, essv5396172, essv5636726, essv6598342, essv5413577, essv6140263, essv5970033, essv6037882, essv5800319, essv5959085, essv6488913, essv5972044, essv6143848, essv6029577, essv5798224, essv6298223, essv5933864, essv5807568, essv5476193, essv5874029, essv6049209, essv6201277, essv5512849, essv6492556, essv5870851, essv5771568, essv5867026, essv5497240, essv5750377, essv5804798, essv6338995, essv5445384, essv5795434, essv6103436, essv6321887, essv5651090, essv5541222, essv6559715, essv5564819, essv6412921, essv5743778, essv5444330, essv5722748, essv6343267, essv6268915, essv5893089, essv6554418, essv6283248, essv6071081, essv5679834, essv6227325, essv5820723, essv6158792, essv5743658, essv5608988, essv5908405, essv5946066, essv6574498, essv6108253, essv6265885, essv5589569, essv5743599, essv6335707, essv6227761, essv5711339, essv5614468, essv6392872, essv5556629, essv6164859, essv6476036, essv6310370, essv6436878, essv6587197, essv5537513, essv5975314, essv5761150, essv5559210, essv5863180, essv6434461, essv6081988, essv6090263, essv5770529, essv6068126, essv6177083, essv5396340, essv5432438, essv5959637, essv6166699, essv5653205, essv6261197, essv6092382, essv5875923, essv6038453, essv5836241, essv6027669, essv6372923, essv6065057, essv6125522, essv6467145, essv5965366, essv6092964, essv5765793, essv6088148, essv5617120, essv5759846, essv6334087, essv5874393, essv5953290, essv6195984, essv5856441, essv5949905, essv5719866, essv5572114, essv6011931, essv6391779, essv6277760, essv5714839, essv6451669, essv5579759, essv5884207, essv6045112, essv6558922, essv5411221, essv6204099, essv5596959, essv5873399, essv6147795, essv5512553, essv6568897, essv6165855, essv6396764, essv6388545, essv6270803, essv5467274, essv5449529, essv6293252, essv6059029, essv5462488
SamplesNA19394, NA19701, NA19058, NA19703, NA19909, NA18947, NA19664, NA19066, NA19399, NA18999, NA19350, NA19359, NA20294, NA19355, NA20332, NA19684, NA19377, NA18959, NA19443, NA20356, NA19920, NA19067, NA18988, NA19446, NA19373, NA19379, NA18940, NA19319, NA19315, NA19678, NA18960, NA19062, NA19457, NA20287, NA19904, NA19384, NA20291, NA19079, NA18949, NA19720, NA19372, NA19722, NA18990, NA18985, NA20342, NA20127, NA19985, NA19789, NA19921, NA19908, NA19070, NA19056, NA19403, NA19717, NA19455, NA20314, NA19663, NA19081, NA18981, NA19064, NA19654, NA19461, NA19084, NA19750, NA19453, NA19059, NA19761, NA19009, NA19452, NA18963, NA19682, NA19469, NA19318, NA19395, NA19625, NA19012, NA18974, NA18953, NA19375, NA19003, NA19729, NA19652, NA19440, NA19390, NA20276, NA19712, NA19434, NA19747, NA19072, NA19444, NA19331, NA19010, NA19835, NA19679, NA19470, NA19428, NA19324, NA19311, NA19083, NA19360, NA19783, NA19328, NA19779, NA19716, NA19468, NA19474, NA20289, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA18989, NA19316, NA19312, NA18968, NA19463, NA19063, NA19065, NA19429, NA19346, NA19074, NA19431, NA19676, NA19648, NA19700, NA19055, NA19397, NA19466, NA19914, NA19332, NA18980, NA19704, NA19819, NA19393, NA19777, NA19057, NA20346, NA18967, NA19374, NA19068, NA19746, NA19396, NA19660, NA19381, NA19076, NA19005, NA18944, NA19382, NA19762, NA19728, NA19448, NA19723, NA18982, NA19916, NA19771, NA19313, NA19088, NA19054, NA19782, NA19681, NA18964, NA19404, NA19651, NA19383, NA18977, NA19917, NA19719, NA20340, NA19371, NA19731, NA19075, NA19385, NA19471, NA19317, NA18986, NA19087, NA19002, NA19901, NA19725, NA19445, NA18975, NA19451, NA19007, NA19657, NA19437, NA19082, NA19707, NA19077, NA19462, NA19347, NA19391, NA19327, NA19982, NA19788, NA20126, NA18976, NA20344, NA19776, NA20299, NA19774, NA19000, NA19449, NA19655, NA20282, NA19338, NA19756, NA19675, NA19436, NA20296, NA19685, NA19401, NA19834, NA19321, NA18961, NA19749, NA19473, NA18950, NA19435, NA18941, NA19773, NA19380, NA19334, NA19439, NA19786, NA19467, NA19085, NA20341, NA19818, NA19759, NA19376, NA19398, NA19078, NA18971, NA19438, NA19472, NA19060, NA18987, NA20334, NA19713, NA19726, NA18972, NA19661, NA18984, NA19755, NA19004, NA19758, NA20322
Known GenesNAT8L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677287
Frequency
Sample Size1151
Observed Gain0
Observed Loss249
Observed Complex0
Frequencyn/a


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