A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660506



Internal ID9579925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121266605..121267602hg38UCSC Ensembl
chr12:121704408..121705405hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5584023, essv6437565, essv6318184, essv6163325, essv6090245, essv5820081, essv6109175, essv5925408, essv5940222, essv5745509, essv6562155, essv6251629, essv5539597, essv5739328, essv5416193, essv6091380, essv6022223, essv5428665, essv6270503, essv6387175, essv6581983, essv5891977, essv5923071, essv5994313, essv5543801, essv5804691, essv5839802, essv6342749, essv5607095, essv6569971, essv6111605, essv5678656, essv5641188, essv5757451, essv6180546, essv6086154, essv6320148, essv6490402, essv6491401, essv5447076, essv5797677, essv5992042, essv6567522, essv5807580, essv5969134, essv6409922, essv5652412, essv6216094, essv6552461, essv5731674, essv6375546, essv5749663, essv6242196, essv5941892, essv6573943, essv5424651, essv6497839, essv5485003, essv5846499, essv5720374, essv5637011, essv5649016, essv5920489, essv6111761, essv6234550, essv5730964, essv6480504, essv6357945, essv5624524, essv5871510, essv5416585, essv6468909, essv6547542, essv6021241, essv6375286, essv5454838, essv6286295, essv6395118, essv5736733, essv5697641, essv6008648, essv6460173, essv6424658, essv5457385, essv6573465, essv6499800, essv5652915, essv6322469, essv6458624, essv6225130, essv6530602, essv6528706, essv5917947, essv5895080, essv6326099, essv5470511, essv5911099, essv5838850, essv6431659, essv5578225, essv6065011, essv5485876, essv6001228
SamplesHG01441, NA12827, NA20787, NA19904, NA18871, HG01055, NA18523, NA19437, NA18952, NA19114, HG00274, NA19401, NA18526, NA18550, NA19072, NA19455, NA19435, HG01389, HG01197, NA19331, HG00428, NA20342, NA20778, NA18542, NA18546, NA19379, NA20805, NA18488, NA19355, NA20798, HG00737, NA18505, HG01551, NA18950, NA18868, NA20340, NA20770, NA19067, NA19428, NA12763, NA18934, HG00250, HG00472, NA19390, HG00337, NA18536, NA19471, NA20504, HG01061, HG01124, NA19083, NA19397, NA20127, NA18956, NA19066, HG01360, NA19256, NA19658, NA19679, NA18634, NA19213, NA19313, NA19189, HG01191, NA19375, NA19393, NA12778, NA18498, NA19002, NA19901, NA18858, HG00116, NA19347, HG01351, NA20797, HG00377, NA19789, NA18945, HG00120, NA20525, NA19376, NA19729, NA20332, NA18538, HG00663, NA19116, NA20287, NA19446, NA18533, HG00281, NA19399, NA19371, NA20758, NA20792, HG01177, NA20768, NA19079, NA20772, NA19385, HG00278, NA19007, NA18553, NA19439
Known GenesCAMKK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660506
Frequency
Sample Size1151
Observed Gain0
Observed Loss103
Observed Complex0
Frequencyn/a


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