A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662423



Internal ID9581842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74762085..74762559hg38UCSC Ensembl
Outerchr16:74762046..74762616hg38UCSC Ensembl
Innerchr16:74795983..74796457hg19UCSC Ensembl
Outerchr16:74795944..74796514hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6483351, essv6507558, essv6305962, essv6406323, essv5674965, essv6222609, essv6174403, essv6264219, essv5460435, essv5908466, essv6552436, essv5688393, essv6498312, essv6088786, essv5851347, essv5854301, essv6184908, essv5705096, essv5706411, essv5679183, essv6325351, essv5665064, essv6122352, essv6121060, essv6541351, essv6264111, essv5618870, essv5948326, essv5522959, essv5958279, essv5886247, essv6004789, essv5863940, essv5442857, essv6288912, essv5780782, essv6449385, essv6475029, essv5566408, essv6273459, essv5871885, essv5721096, essv6074471, essv5448891, essv5745195, essv6096437, essv5531515, essv5696030, essv6022526, essv5534514, essv6464201, essv6137296, essv6443268, essv5836832, essv6212864, essv5936284, essv6588256, essv6167673, essv5714158, essv6262617, essv6154028, essv6178013, essv6552724, essv5821851, essv5721267, essv6410077, essv5635623, essv5598841, essv5945177, essv5661738, essv5794675, essv6068576, essv5777202, essv6192009, essv5415577, essv6463322, essv6008775, essv5498967, essv5406271, essv6377633, essv6146847, essv5448131, essv6040820, essv6051619, essv6319855, essv5517536, essv6052150, essv6056644, essv6407919, essv5925072, essv5510841, essv6290913, essv6558574, essv6549416, essv6557026, essv6305885, essv6307212, essv6499715, essv6196842, essv6125508, essv6543847, essv5599337, essv6378734, essv5505766, essv5903370, essv5401806, essv6217707, essv5928345, essv6592318, essv6312289, essv5890774, essv6033945, essv6553007, essv6070371, essv6378040, essv6036659, essv6115679, essv5773477, essv5626721, essv6004160, essv6045291, essv6224173, essv5757750, essv6260855, essv6515270, essv6388397, essv6496808, essv5399257, essv5772151, essv6146873, essv5958900, essv5785042, essv6289102, essv5415841, essv6428750, essv5598327, essv5921691, essv6200893, essv6265049, essv5876314, essv6097073, essv6565660, essv6267544, essv5988890, essv5867211, essv5613483, essv5650963, essv5906051, essv6420446, essv5915769, essv6546040, essv5600685, essv5927468, essv5999151, essv5646193, essv6106517, essv5857854, essv6084377
SamplesHG00380, NA12718, NA19445, NA19625, HG00257, NA18616, NA20771, NA20809, NA20785, NA18874, HG00186, HG00160, NA20346, NA19223, HG01079, NA20296, NA20775, NA18948, NA19317, NA19334, HG00189, NA20808, NA19451, NA20816, HG00375, NA19449, HG00148, NA19920, HG00270, NA19834, HG00111, HG01204, NA19651, NA20314, NA18488, NA19236, NA20798, HG00319, NA20322, NA19467, NA20521, NA18873, NA19438, HG00269, HG00554, HG01550, HG00158, NA19067, NA19428, NA12763, HG01140, NA12282, NA20356, NA19390, NA19652, NA11994, NA19917, NA20811, NA18536, HG00638, NA19471, NA19107, NA20530, HG00231, NA20783, NA20801, NA20807, NA18856, NA19397, NA07048, NA19440, NA19774, HG00125, HG00258, HG01113, HG01136, HG00264, NA19773, HG00174, NA19658, NA19681, NA19663, HG00284, NA12777, NA19316, NA19684, HG00133, NA19000, NA19213, NA19676, NA20769, HG00373, NA19377, HG00124, HG01097, HG00233, NA19372, HG01191, NA19375, NA20126, NA19384, NA12348, NA20790, NA18486, NA06986, NA20344, NA19713, NA19901, HG00232, NA11892, HG00116, HG00103, NA20815, NA19328, NA19318, NA19711, HG00589, NA19777, HG00120, NA19235, HG01094, NA19921, NA20537, HG01095, NA20276, NA18867, NA19403, NA20518, NA20287, NA19434, HG01390, NA20507, NA11992, HG00123, HG00281, NA18917, NA12399, NA19399, NA12842, NA19371, HG00367, NA12045, NA11829, NA19130, NA20528, NA18853, HG00442, HG01462, HG00336, NA19092, NA19468, HG00278, NA19007, NA12775, NA19466, HG01354, NA19439, HG01198
Known GenesFA2H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662423
Frequency
Sample Size1151
Observed Gain0
Observed Loss158
Observed Complex0
Frequencyn/a


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