A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv457e199



Internal ID22758230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67112340..67113280hg38UCSC Ensembl
chr15:67404678..67405618hg19UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg38941
hg19941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658541, esv2676792
SamplesNA19701, HG00650, HG00442, HG01173, NA19058, NA19703, HG00608, NA18621, NA20766, NA19664, NA18565, HG00257, HG00315, NA18999, NA18530, NA18616, HG00449, HG00654, NA19443, NA19920, NA18510, NA20806, NA18602, HG00693, NA18988, HG00271, NA19379, HG00589, NA18597, NA19678, NA18923, NA18567, NA20795, NA18960, NA19062, NA07048, HG01083, HG01365, HG00185, NA19904, NA19384, HG00243, NA18949, HG00512, HG01069, NA19720, HG01080, HG00148, NA20775, NA18868, HG00325, HG00534, NA19235, HG00705, HG00160, NA18990, HG01198, NA18557, HG01048, NA18985, HG01133, NA20757, HG00323, HG01550, HG00253, NA19921, HG01124, HG00137, NA12777, HG00154, NA19908, HG00282, NA19070, NA19056, NA19403, HG00557, HG00657, NA20810, NA19455, NA19663, HG00556, HG00583, HG00344, HG00275, NA18579, NA18871, NA18534, NA19064, HG01102, HG00284, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, NA06989, HG01101, NA18553, NA19009, NA18555, HG00146, NA18963, HG00704, NA19682, NA19469, NA19395, NA19625, NA18858, NA18593, NA19012, NA18953, HG01148, NA19003, NA19729, NA18632, NA19652, NA19440, HG00254, NA19390, HG00336, HG00265, HG00625, NA18564, HG00353, NA18628, NA19331, NA19010, HG01174, HG01375, NA19835, HG00473, HG00237, NA19679, NA19470, NA19324, HG01137, NA19083, NA18943, NA19360, NA19783, NA12763, NA18615, HG00339, HG00614, NA19785, NA18631, NA19779, NA19716, NA19468, NA19474, NA18636, NA20786, HG00112, NA11843, NA19080, NA19780, NA18983, HG00377, HG00595, NA19312, HG01125, HG00628, NA18624, NA18623, NA19063, NA18612, NA19346, NA19074, NA18487, HG00553, HG00581, NA19676, NA18620, HG00593, HG00626, HG01060, HG00592, HG01356, NA20543, HG00536, NA11829, HG00361, HG01359, HG00524, NA19914, HG00187, NA18980, HG01079, HG01374, HG00306, NA20813, NA18917, HG00640, HG00367, HG00699, NA18545, NA19393, HG01456, HG00566, NA18606, NA20808, HG00177, NA19190, NA19068, NA19746, NA19660, NA19381, NA19076, NA18550, HG01070, HG00501, NA18489, NA19448, NA18595, HG00702, HG00448, NA20586, NA19723, NA18635, NA19916, HG00330, NA12348, HG00736, HG00610, NA19088, HG00247, NA19054, NA19681, HG00590, NA20541, NA18611, NA12761, HG01134, HG00277, HG01067, NA19383, HG00683, NA18874, NA06984, NA18977, NA19917, NA19719, HG01072, NA19371, NA18560, NA18617, NA19385, HG00422, NA19471, NA19317, NA18986, HG00309, HG00427, NA20811, NA19901, NA19725, HG00637, HG00338, NA19456, NA19445, HG00530, HG00419, NA18638, HG00108, HG00260, NA19007, NA18614, HG01353, HG00543, HG00560, NA19247, NA18613, HG00183, NA19082, NA19707, NA18934, HG00596, NA19077, HG00428, NA19462, HG00653, HG00577, HG00701, HG00436, HG00320, HG00533, HG00500, NA19788, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, HG01197, NA18499, NA18856, HG00613, HG00525, NA19338, NA18634, NA19675, HG01204, NA18576, NA20765, NA18608, NA19685, HG00119, NA18535, HG00285, NA19834, NA18961, NA18952, NA18543, NA18559, NA19749, NA18950, HG00278, NA19380, NA20785, NA19334, HG00607, HG01108, NA19085, NA06986, NA19818, NA19376, NA19078, HG00707, HG00111, NA20348, HG00578, HG01491, NA18987, HG00656, NA19713, HG01055, HG00174, HG00698, HG00131, NA19213, NA18552, HG00372, HG00252, HG00472, HG01378, NA19004, HG01082, NA19758, HG00345, NA18522, HG00180, NA18622, HG01061
Known GenesSMAD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv457e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss356
Observed Complex0
Frequencyn/a


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