A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760997



Internal ID10377304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78127117..78342235hg38UCSC Ensembl
Innerchr6:78836834..79051952hg19UCSC Ensembl
Innerchr6:78893553..79108671hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38215119
hg19215119
hg18215119
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013829, essv7013931, essv7013932, essv7013935, essv7013893, essv7013868, essv7013835, essv7013914, essv7013942, essv7013908, essv7013884, essv7013954, essv7013891, essv7013877, essv7013925, essv7013947, essv7013851, essv7013870, essv7013899, essv7013912, essv7013888, essv7013847, essv7013924, essv7013898, essv7013897, essv7013934, essv7013901, essv7013857, essv7013846, essv7013874, essv7013957, essv7013951, essv7013838, essv7013963, essv7013909, essv7013886, essv7013839, essv7013885, essv7013862, essv7013904, essv7013866, essv7013923, essv7013830, essv7013890, essv7013913, essv7013920, essv7013910, essv7013883, essv7013836, essv7013848, essv7013953, essv7013887, essv7013842, essv7013930, essv7013929, essv7013921, essv7013902, essv7013915, essv7013840, essv7013895, essv7013881, essv7013941, essv7013896, essv7013961, essv7013926, essv7013952, essv7013962, essv7013873, essv7013956, essv7013841, essv7013949, essv7013943, essv7013858, essv7013894, essv7013880, essv7013849, essv7013918, essv7013871, essv7013937, essv7013875, essv7013946, essv7013950, essv7013905, essv7013882, essv7013834, essv7013859, essv7013928, essv7013959, essv7013876, essv7013860, essv7013872, essv7013917, essv7013853, essv7013854, essv7013927, essv7013869, essv7013938, essv7013837, essv7013964, essv7013906, essv7013940, essv7013916, essv7013832, essv7013863, essv7013939, essv7013861, essv7013960, essv7013864, essv7013958, essv7013831, essv7013907, essv7013936, essv7013879, essv7013865, essv7013852, essv7013892, essv7013903, essv7013945, essv7013845, essv7013919, essv7013850, essv7013843, essv7013948
SamplesRW_0208, RW_0237, RW_0591, RW_0292, RW_0526, RW_0069, RW_0158, RW_0610, RW_0345, RW_0075, RW_0262, RW_0258, RW_0566, RW_0090, RW_0141, RW_0559, RW_0025, RW_0319, RW_0217, RW_0640, RW_0614, RW_0179, RW_0551, RW_0510, RW_0503, RW_0082, RW_0241, RW_0246, RW_0218, RW_0544, RW_0121, RW_0161, RW_0616, RW_0230, RW_0623, RW_0269, RW_0577, RW_0114, RW_0540, RW_0147, RW_0224, RW_0651, RW_0103, RW_0545, RW_0602, RW_0349, RW_0576, RW_0505, RW_0094, RW_0619, RW_0311, RW_0279, RW_0618, RW_0552, RW_0601, RW_0002, RW_0077, RW_0593, RW_0530, RW_0299, RW_0054, RW_0666, RW_0204, RW_0177, RW_0587, RW_0325, RW_0250, RW_0222, RW_0281, RW_0064, RW_0129, RW_0534, RW_0633, RW_0524, RW_0092, RW_0571, RW_0333, RW_0201, RW_0193, RW_0056, RW_0289, RW_0088, RW_0068, RW_0523, RW_0521, RW_0042, RW_0564, RW_0166, RW_0513, RW_0622, RW_0126, RW_0021, RW_0529, RW_0200, RW_0232, RW_0273, RW_0662, RW_0045, RW_0128, RW_0599, RW_0154, RW_0170, RW_0124, RW_0613, RW_0079, RW_0306, RW_0038, RW_0050, RW_0014, RW_0652, RW_0581, RW_0057, RW_0351, RW_0018, RW_0508, RW_0266, RW_0207, RW_0285, RW_0213, RW_0344, RW_0532
Known Genes
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760997
Frequency
Sample Size1109
Observed Gain17
Observed Loss104
Observed Complex0
Frequencyn/a


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