A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665280



Internal ID9584699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111858637..111859372hg38UCSC Ensembl
chr12:112296441..112297176hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38736
hg19736
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, essv5965665, essv5765248, essv6395470, essv6345709, essv5832154, essv6225394, essv5938124, essv6430628, essv5404930, essv6006473, essv5685205, essv5765049, essv5504684, essv5849070, essv6453636, essv5771595, essv5918703, essv6086667, essv6432635, essv6496824, essv6510475, essv5665428, essv6217934, essv5433131, essv6524790, essv5610387, essv5643197, essv5596778, essv6547825, essv5608240, essv5691448, essv6405436, essv5588300, essv5446996, essv6165075, essv5408792, essv5567989, essv6443602, essv6098939, essv5966261, essv6047689, essv6382991, essv6371978, essv6110049, essv5493532, essv5499909, essv6534237, essv5461180, essv6079721, essv6491978, essv6009682, essv6342080, essv5704433, essv5846528, essv6114164, essv5572314, essv5563933, essv6556384, essv5464092, essv6091555, essv6142726, essv5495639, essv5476534, essv5539362, essv6487316, essv5833863, essv6302057, essv5726055, essv5496676, essv5457757, essv6404482, essv6156592, essv5743218, essv5975233, essv6558295, essv5779204, essv5915134, essv6189783, essv5441152, essv5804010, essv5541601, essv5828895, essv6385523, essv6549216, essv5981293, essv6094150, essv6315733, essv6241955, essv5847236, essv6500955, essv5899239, essv5597435, essv6572143, essv6388293, essv6326462, essv6208479, essv5759973, essv6275079, essv6496879, essv6452860, essv6559133, essv5413300, essv5652270, essv6149598, essv5639211, essv5395690, essv5818328, essv6062962, essv5564708, essv5482859, essv6365516, essv5411757, essv6492803, essv6145576, essv6296440, essv6105279, essv6368394, essv6527959, essv5685712, essv6383928, essv5700873, essv5986914, essv5851672, essv6000405, essv6482749, essv6138871, essv6267021, essv6489981, essv6064613, essv6488342, essv6289659, essv5577653, essv5599192, essv5636420, essv5577770, essv5611876, essv5926647, essv6384144, essv5989143, essv5871085, 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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665280
Frequency
Sample Size1151
Observed Gain0
Observed Loss157
Observed Complex0
Frequencyn/a


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