A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv273e199

Internal ID20123575
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691448..29693502hg38UCSC Ensembl
chr12:29844381..29846435hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668814, esv2660313
SamplesNA19012, NA18605, HG01440, NA18520, NA18595, NA20771, HG00182, HG01353, NA18530, NA18535, NA19081, NA12342, HG00328, NA18523, NA19437, HG00705, HG00437, HG00500, HG01083, HG00274, NA20796, NA18526, NA19311, HG00160, NA19469, NA20346, NA18603, HG01389, NA19319, HG00463, NA18516, NA19359, HG01051, HG01365, NA19334, HG00189, HG00577, HG00428, HG00542, NA19449, HG00148, HG01350, HG00111, HG00581, NA18963, HG00404, NA07051, HG01101, HG01134, HG01168, NA20798, NA20322, NA18557, NA18943, HG01171, HG00479, NA18596, NA18628, NA20586, HG00247, HG00269, HG01133, NA18632, NA19062, HG00158, HG00556, NA19067, NA19428, NA19085, HG00346, HG01384, NA18624, NA18934, HG00179, NA18967, HG01456, NA19059, NA19076, HG00593, HG01375, NA19390, NA19652, HG00583, NA18566, HG00308, HG00337, NA11994, NA18635, NA19057, NA19917, HG00140, NA18960, NA19443, HG00096, NA07357, NA18623, NA20504, HG01048, NA19107, NA19444, NA19722, NA18990, HG00372, HG00692, HG01183, NA18991, NA18636, NA20754, NA19083, NA19088, NA19397, NA18956, NA19398, NA19429, NA19066, NA19774, HG00419, NA18547, HG00258, HG01360, NA18976, HG01113, HG01136, NA18973, NA19075, HG00264, NA11995, NA18916, NA19773, HG00174, NA18593, NA18982, NA19056, NA19663, HG00403, NA19457, NA12777, NA18634, HG00343, NA19082, HG00584, HG00662, NA20773, NA19190, NA19000, NA19676, HG00436, HG00159, HG00620, NA19377, NA07346, NA18537, NA18620, NA19129, NA19759, NA19372, HG01516, NA18633, NA18572, HG00640, NA19375, NA20790, NA18923, NA18986, NA19102, HG00559, NA06986, NA20753, NA20344, NA19657, NA19002, HG01073, NA19098, HG00501, HG00672, NA19901, HG00282, HG01170, NA19704, NA20814, HG00478, NA18487, NA18564, NA18942, HG01351, HG00740, HG00524, NA19720, NA18988, HG00153, HG00512, HG01070, NA19707, HG00525, NA12283, NA18562, NA19074, NA19328, NA18910, NA18974, NA18985, HG00589, NA19235, HG01094, NA18619, NA18987, NA18999, NA20581, HG00427, HG01137, NA18597, HG00590, HG00595, HG01190, NA18552, HG01095, NA18983, HG00443, NA18599, NA18567, HG00611, NA12749, NA20276, HG00650, NA18538, NA18867, NA18565, NA19009, HG00663, HG00118, NA18544, NA19434, NA19755, HG00608, NA18577, NA19099, NA18614, NA20317, NA19064, NA19749, HG00285, NA18944, NA19063, NA12546, NA19655, HG01366, NA18571, HG00422, NA18610, NA20758, NA19070, NA18984, NA20792, NA19756, HG00251, NA19346, NA20768, HG01498, HG00324, HG00625, HG00690, NA12717, NA18532, NA18574, HG00473, NA19350, HG01102, HG01462, NA19079, NA18615, HG00143, HG00476, HG00671, NA20517, NA19385, HG00271, HG00136, NA19065, NA19466, NA18980, HG01067, HG01354, NA19439, HG00312, HG00327, HG01198, NA20281, NA18964, NA19625, HG00318, HG00536, HG01250, NA20503, HG01072, NA20785, HG01052, NA18561, NA18952, NA18975, NA07056, NA18874, NA20516, HG00731, HG00245, NA19783, NA20508, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, NA19072, NA19455, NA20299, NA12340, NA18948, NA19317, NA20808, NA19451, NA18972, NA19010, HG00375, HG00173, HG01491, NA20778, NA19782, HG00553, HG00190, HG00106, HG00701, HG01188, HG00651, NA19004, NA11893, HG00331, NA18965, NA19084, HG01551, NA18873, NA19147, NA19776
Known GenesTMTC1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv273e199
Sample Size1151
Observed Gain0
Observed Loss342
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer