A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659883



Internal ID9579302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24115214..24115501hg38UCSC Ensembl
chr16:24126535..24126822hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv487e199
Supporting Variantsessv6426031, essv6595676, essv5741692, essv5409024, essv5430085, essv5998922, essv5773501, essv6100188, essv5751473, essv6472376, essv5504870, essv6200229, essv5468110, essv6409347, essv5895097, essv6561947, essv6560400, essv5811434, essv5853612, essv5414605, essv5809922, essv6134004, essv6576232, essv5942084, essv5809786, essv6347028, essv6191998, essv5609552, essv6255283, essv5879863, essv6418598, essv5422303, essv6079095, essv5419395, essv6586433, essv5736974, essv5524642, essv5768035, essv5574736, essv5434252, essv5983948, essv6354114, essv6441220, essv6147533, essv5428880, essv6007426, essv6136377, essv5502141, essv6596827, essv6066330, essv5799546, essv6261658, essv5867973, essv6541212, essv5849299, essv6568224, essv6328694, essv5961030, essv5657121, essv5462359, essv6323694, essv6097188, essv6017164, essv5834577, essv6523931, essv6105303, essv6110978, essv6182577, essv5634736, essv5478174, essv6593248, essv6576813, essv5947102, essv6087692, essv6010444, essv5977736, essv5644337, essv6431978, essv6334061, essv6400058, essv5942893, essv6347347, essv6505866, essv6045605, essv5735072, essv5796900, essv6554664, essv6588516, essv6566748, essv5834921, essv6503672, essv6565325, essv5420843, essv6341525, essv6047429, essv5419744, essv6309663, essv6207933, essv6175159, essv5692738, essv6251255, essv5527165, essv6439840, essv6184523, essv5417188, essv6338185, essv6013054, essv5679390, essv5883246, essv5456626, essv6217074, essv5574381, essv5554333, essv6331179, essv5829997, essv6048971, essv6143079, essv5531745, essv5982654, essv5771480, essv5903943, essv5726805, essv5763422, essv6299285
SamplesHG01060, NA19700, HG01462, HG00142, NA18508, NA19704, NA20531, NA18599, NA20816, NA20802, HG00640, HG00318, HG00181, HG01465, HG00103, NA19819, NA12004, NA12340, NA19684, HG00737, HG00115, HG00177, HG00150, NA19443, HG00261, NA20771, HG01522, HG00327, HG00271, HG00127, NA18944, HG01366, NA20798, HG01177, HG00689, HG00610, NA20540, HG01083, HG00270, HG00537, HG00311, HG01110, HG00158, NA12761, NA11930, HG01080, NA20518, HG00335, HG00106, NA20775, HG01519, HG00262, NA19719, NA11932, NA12889, HG00309, HG00160, HG00338, HG01048, HG00323, NA18973, NA20818, HG01183, NA19670, NA20524, HG00245, NA12342, HG00653, NA20760, HG00475, HG00344, HG00263, NA18871, HG00239, HG01102, HG00324, HG00284, HG01073, NA19114, HG00651, HG00250, HG00331, NA11894, HG01334, NA12144, NA18593, NA12546, NA20534, NA19675, HG00258, HG00124, NA20522, NA18543, NA18559, NA12272, HG00136, NA19444, NA12046, NA20530, NA20778, NA19470, HG00116, NA20516, NA19083, NA20797, NA18610, NA12347, NA06986, HG00339, HG00614, HG00111, HG00259, NA19713, HG01055, HG00123, HG00280, NA20502, NA07056, HG01082, HG00171, NA18624, HG01112, HG00554, HG00553
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659883
Frequency
Sample Size1151
Observed Gain0
Observed Loss124
Observed Complex0
Frequencyn/a


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