A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv273e199



Internal ID20123575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691448..29693502hg38UCSC Ensembl
chr12:29844381..29846435hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382055
hg192055
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv273e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss342
Observed Complex0
Frequencyn/a


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