A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760396



Internal ID10027759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30077711..30807423hg38UCSC Ensembl
Innerchr15:30369914..31099626hg19UCSC Ensembl
Innerchr15:28157206..28886918hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38729713
hg19729713
hg18729713
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e203
Supporting Variantsessv7023051, essv7023068, essv7023065, essv7023036, essv7023064, essv7023073, essv7023075, essv7023062, essv7023080, essv7023079, essv7023041, essv7023054, essv7023057, essv7023074, essv7023082, essv7023061, essv7023071, essv7023043, essv7023052, essv7023084, essv7023048, essv7023069, essv7023042, essv7023037, essv7023058, essv7023049, essv7023053, essv7023081, essv7023050, essv7023076, essv7023070, essv7023045, essv7023038, essv7023063, essv7023047, essv7023059, essv7023067, essv7023046, essv7023056, essv7023040, essv7023083, essv7023039, essv7023072, essv7023060
SamplesRW_0169, RW_0123, RW_0300, RW_0069, RW_0520, RW_0196, RW_0007, RW_0178, RW_0104, RW_0146, RW_0297, RW_0226, RW_0271, RW_0304, RW_0267, RW_0024, RW_0616, RW_0506, RW_0522, RW_0602, RW_0349, RW_0094, RW_0619, RW_0280, RW_0286, RW_0002, RW_0299, RW_0085, RW_0325, RW_0129, RW_0020, RW_0633, RW_0078, RW_0200, RW_0190, RW_0048, RW_0132, RW_0284, RW_0273, RW_0045, RW_0613, RW_0110, RW_0063, RW_0508
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)esv2760396
Frequency
Sample Size1109
Observed Gain24
Observed Loss20
Observed Complex0
Frequencyn/a


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