A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2665280

Internal ID9584699
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111858637..111859372hg38UCSC Ensembl
chr12:112296441..112297176hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6023218, essv6206724, essv5632794, essv5714701, essv5554043, essv6431343, essv6575072, essv6197096, essv5921386, essv5765248, essv5965665, essv6395470, essv6345709, essv5832154, essv6225394, essv5938124, essv5404930, essv6430628, essv6006473, essv5685205, essv5765049, essv5504684, essv5849070, essv5771595, essv6453636, essv5918703, essv6086667, essv6432635, essv6496824, essv6510475, essv5665428, essv6217934, essv5433131, essv5610387, essv5643197, essv6524790, essv5596778, essv6547825, essv5608240, essv5691448, essv6405436, essv5446996, essv5588300, essv6165075, essv5408792, essv5567989, essv6443602, essv6098939, essv5966261, essv6047689, essv6382991, essv6371978, essv6110049, essv5493532, essv5499909, essv6534237, essv5461180, essv6079721, essv6491978, essv6009682, essv5704433, essv5846528, essv6342080, essv6114164, essv5572314, essv5563933, essv6556384, essv5464092, essv5495639, essv6091555, essv6142726, essv5476534, essv5539362, essv6487316, essv5833863, essv6302057, essv5496676, essv5726055, essv5457757, essv6404482, essv6156592, essv5743218, essv5975233, essv5779204, essv6558295, essv5915134, essv5441152, essv5804010, essv6189783, essv5541601, essv5828895, essv6385523, essv6549216, essv5981293, essv6094150, essv6315733, essv6241955, essv5847236, essv5899239, essv6500955, essv5597435, essv6572143, essv6388293, essv6326462, essv5759973, essv6208479, essv6275079, essv6452860, essv6496879, essv6559133, essv5413300, essv5652270, essv6149598, essv5639211, essv5395690, essv5818328, essv5564708, essv6062962, essv5482859, essv6365516, essv5411757, essv6492803, essv6105279, essv6145576, essv6296440, essv6368394, essv6527959, essv5685712, essv6383928, essv5700873, essv5986914, essv5851672, essv6000405, essv6138871, essv6482749, essv6267021, essv6064613, essv6489981, essv6488342, essv6289659, essv5577653, essv5599192, essv5636420, essv5577770, essv5611876, essv5926647, essv6384144, essv5871085, essv5989143, essv5675471, essv6142327, essv6032320, essv6288692, essv6356441, essv5626938, essv5511885, essv5891536
SamplesHG00613, NA20281, NA19012, NA18621, HG00309, NA18964, HG00537, NA12249, HG00536, HG00607, NA18595, HG00619, NA18534, NA18530, NA18535, NA18630, HG00418, HG01075, NA19081, HG00437, HG00500, HG00171, HG00274, HG00245, NA12347, HG00565, NA18550, NA06989, NA19435, NA20299, NA18603, HG00657, NA18516, HG00577, HG01488, HG00475, NA18573, NA20778, NA19782, HG00139, NA18489, NA18541, HG00701, HG00698, NA19685, HG00557, NA18557, NA18873, NA18950, NA18596, NA19654, HG00247, NA18632, NA18559, NA19062, HG00339, HG00556, NA19076, NA11994, NA19057, NA19068, NA18536, NA19660, NA18576, NA18622, NA18960, NA18617, HG00692, NA18636, NA18592, NA19083, NA19088, HG00628, HG00315, NA12761, NA19908, NA11933, HG00125, HG00258, NA11831, HG01136, NA18637, NA19075, NA19835, NA18982, NA19056, NA19663, NA18634, NA19700, NA19082, HG00133, HG00267, NA19395, NA18620, NA19771, NA19703, NA18486, HG00559, HG00560, NA18558, HG00265, HG00273, HG00282, HG00277, HG01080, NA18613, HG00524, NA18988, HG00329, HG00512, NA19074, NA19235, NA18619, NA18987, HG00427, NA18597, NA18599, NA19723, HG00611, HG01334, NA20276, NA06984, NA18867, NA19403, NA18565, HG00262, NA18989, NA18602, HG00608, HG00654, NA18614, NA18548, HG00656, NA12546, HG00422, HG00708, NA19070, HG00367, NA20792, HG00320, HG00690, NA18532, NA18549, NA18908, HG00684, NA18615, HG00476, HG00671, NA19087, HG00272, HG00702, HG00704, NA19385, NA19065, HG00531, NA18553, HG00327
Known GenesMAPKAPK5
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2665280
Sample Size1151
Observed Gain0
Observed Loss157
Observed Complex0

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