A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760533



Internal ID10027896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49678015..50004465hg38UCSC Ensembl
Innerchr11:49699567..50025986hg19UCSC Ensembl
Innerchr11:49656143..49982562hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38326451
hg19326420
hg18326420
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995877, essv6995915, essv6995899, essv6995901, essv6995927, essv6995891, essv6995892, essv6995875, essv6995873, essv6995917, essv6995890, essv6995906, essv6995928, essv6995924, essv6995881, essv6995920, essv6995880, essv6995912, essv6995916, essv6995898, essv6995925, essv6995902, essv6995914, essv6995918, essv6995872, essv6995929, essv6995919, essv6995876, essv6995885, essv6995903, essv6995888, essv6995886, essv6995905, essv6995884, essv6995887, essv6995871, essv6995923, essv6995913, essv6995895, essv6995910, essv6995893, essv6995908, essv6995870, essv6995882, essv6995907, essv6995897, essv6995926, essv6995883, essv6995904, essv6995896, essv6995874, essv6995921, essv6995909, essv6995879, essv6995894
SamplesSW_0119, SW_0086, SW_1192, SW_1570, SW_0244, SW_0118, SW_0241, SW_1013, SW_1138, SW_1290, SW_0268, SW_0048, SW_0889, SW_1058, SW_1422, SW_1358, SW_1342, SW_0632, SW_1018, SW_0814, SW_0828, SW_1044, SW_0285, SW_0757, SW_0116, SW_0785, SW_0159, SW_1404, SW_0003, SW_0830, SW_1485, SW_1511, SW_0634, SW_1367, SW_1008, SW_0225, SW_0665, SW_1039, SW_0791, SW_1111, SW_0076, SW_0775, SW_1476, SW_0015, SW_1033, SW_0578, SW_0660, SW_0103, SW_1074, SW_0175, SW_1080, SW_1273, SW_1396, SW_0200, SW_0313
Known GenesLOC440040, OR4C12, OR4C13
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)esv2760533
Frequency
Sample Size1109
Observed Gain2
Observed Loss53
Observed Complex0
Frequencyn/a


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