A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678491



Internal ID9597910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67479902..67480220hg38UCSC Ensembl
chr16:67513805..67514123hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6437159, essv6479081, essv6573907, essv5818194, essv6171486, essv5839463, essv6121677, essv5409651, essv5667530, essv5992667, essv6586069, essv5922979, essv6395056, essv5758080, essv6492846, essv5616743, essv5943895, essv5767144, essv6144545, essv5773920, essv6162617, essv6347024, essv6542493, essv5571402, essv5876332, essv6111070, essv5779055, essv5821321, essv6273138, essv6217545, essv6151939, essv6430584, essv6246419, essv6454989, essv5640213, essv5778845, essv5599796, essv6234949, essv5899637, essv6033135, essv5967228, essv5882747, essv6094121, essv6266604, essv6331247, essv6371070, essv5914565, essv5786513, essv6354170, essv5734433, essv5977013, essv6208997, essv6593588, essv6132664, essv6392737, essv5622719, essv6031595, essv5938199, essv5847034, essv6558110, essv5780254, essv5494872, essv5705604, essv5524386, essv5513891, essv6289024, essv5909668, essv5612350, essv6222254, essv6165821, essv5589131, essv5957267, essv5442709, essv6493005, essv6206350, essv5407388, essv6346207, essv6247172, essv5726776, essv5658043, essv6368678, essv5836750, essv6406045, essv5979186, essv5813719, essv6234323, essv6224499, essv6570207, essv5749759, essv5788160, essv6051283, essv5743642, essv5862084, essv6186610, essv6054583, essv6591168, essv6598114, essv5720665, essv6564682, essv6595471, essv5956308, essv5955912, essv6243312, essv5846635, essv5698426, essv6550963, essv5599550, essv6103576, essv6021423, essv5434391, essv6452983, essv5770558, essv5591743, essv6302249, essv5576868, essv6253915, essv5758161, essv6147262, essv5730088, essv5964123, essv5478483, essv5636551, essv5536159, essv5946642, essv6375317, essv5681118, essv6066493, essv5727103, essv5626834, essv6546286, essv5549391, essv5889119, essv5799768, essv6144216, essv6217822, essv5402835, essv6164812, essv6269504, essv5540551, essv5936139, essv5450572, essv5463360, essv5834510, essv6286109, essv5964798, essv6502197, essv5608288, essv6129060, essv5741921, essv5501791, essv5926724, essv5767649, essv5991744, essv6572228, essv6431647, essv5594924, essv6344828, essv6459035, essv5969159, essv6044049, essv6495639, essv5731799, essv6288750, essv5551116, essv6542561, essv5824064, essv5559877, essv5560412, essv6351079, essv5896573, essv5550720, essv6253932, essv5429498, essv5411252, essv6125855, essv5523708, essv5523536, essv5695871, essv6076113, essv6325140, essv6014779, essv5542564, essv5709799, essv5560711, essv6071105, essv6101522, essv6143103, essv5872195, essv6381182, essv5830441, essv5941946, essv5670159, essv5529289, essv6424509, essv6379954, essv6350174, essv5724898, essv6428921, essv6349882, essv5812021, essv6492516, essv5522016, essv5421408, essv6001393, essv6042496, essv5903284, essv6298032, essv6424047, essv5537025, essv6492289, essv5524943, essv5893805, essv6132246, essv6507324, essv5847700, essv6300777, essv5460603, essv6546042, essv6572857, essv5661144, essv6225573, essv5516488, essv6083527, essv5736361, essv6068191, essv5714157, essv6305857, essv6554017, essv5604515, essv5675013, essv6303975, essv6108166, essv5997515, essv6331722, essv5457522, essv5676025, essv5671481, essv5767456, essv6288761, essv6496454, essv6096826, essv6134385
SamplesNA19137, NA19207, NA18870, NA19312, NA12489, NA19152, NA19445, NA19625, HG01359, NA18861, NA19436, NA07347, NA19712, NA18520, NA19904, NA20278, NA18871, NA18561, NA19819, NA18933, NA19404, HG00328, NA18523, NA19437, NA20752, NA19114, NA18874, NA19209, NA18501, NA19093, NA19401, NA19311, NA19469, NA18511, NA19223, NA19455, NA19435, HG01079, NA18545, NA20294, NA19319, NA20296, NA18516, NA19359, HG01051, NA12813, HG01492, NA19331, NA19453, NA20800, HG01082, NA18953, NA19451, NA18972, NA18517, NA19449, HG01491, NA18489, NA19461, NA19144, NA19210, NA19379, NA18507, NA20539, NA19834, HG00111, HG01204, NA19648, NA19257, NA19108, NA19701, NA18965, NA18488, NA19236, NA19355, NA19474, HG00737, NA18505, NA19472, NA12287, NA19467, NA18873, NA19147, NA19438, NA18868, NA20340, NA20586, HG01107, NA19463, NA20761, NA19428, NA18912, NA19383, NA19982, NA18934, NA18508, NA18967, NA19239, NA20356, HG01375, NA19390, NA20811, NA12155, NA18960, NA19197, NA19443, HG00096, NA19471, NA19900, NA19107, NA19444, NA20783, HG00372, HG01183, NA19396, HG01124, NA18856, NA19397, NA20127, HG00330, NA07048, NA19398, NA19440, NA19908, HG00258, HG01360, NA11843, NA19985, NA11831, NA18976, NA19256, HG01113, NA19835, NA20282, NA18916, NA12830, NA19457, NA19316, HG00114, NA19190, NA12006, NA19247, NA19313, NA19377, NA19380, NA19395, NA19153, HG01465, NA19129, NA19172, NA19189, NA19372, NA20291, NA19374, NA19375, NA19393, NA19373, NA19384, NA18498, NA20790, NA18923, NA18486, NA18968, NA19102, NA18522, NA19238, NA18510, NA20344, NA18502, NA19119, NA19098, NA19901, NA18504, NA19704, NA11892, NA18487, NA18858, NA19347, NA19332, NA19909, HG01070, NA19707, NA18562, NA19131, NA19159, NA18910, NA19382, NA19318, NA19711, NA18974, NA19462, NA19235, NA19376, NA18599, NA18907, NA18909, NA19391, NA19201, NA18867, NA19394, NA19403, NA12413, NA19116, NA19431, NA18971, NA19434, NA19818, NA19099, NA19452, NA11992, NA19225, NA18917, NA19160, NA19655, HG01366, NA18499, NA18924, NA19371, NA20543, NA19198, NA19916, HG01108, NA19315, NA19130, NA19171, NA19240, NA19346, HG00641, NA18853, NA19204, NA19350, NA18908, NA19381, NA19473, HG01377, NA06994, HG00143, NA19092, NA19200, NA19385, HG01067, NA19439
Known GenesATP6V0D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678491
Frequency
Sample Size1151
Observed Gain0
Observed Loss242
Observed Complex0
Frequencyn/a


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