A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2660506

Internal ID9579925
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121266605..121267602hg38UCSC Ensembl
chr12:121704408..121705405hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2660506
Sample Size1151
Observed Gain0
Observed Loss103
Observed Complex0

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