A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760194



Internal ID10376502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4215479..4363567hg38UCSC Ensembl
Innerchr11:4236709..4384797hg19UCSC Ensembl
Innerchr11:4193285..4341373hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38148089
hg19148089
hg18148089
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16e203
Supporting Variantsessv7019041, essv7019063, essv7019064, essv7019038, essv7019058, essv7019069, essv7019059, essv7019040, essv7019047, essv7019023, essv7019043, essv7019062, essv7019037, essv7019036, essv7019065, essv7019061, essv7019051, essv7019045, essv7019054, essv7019039, essv7019048, essv7019056, essv7019028, essv7019068, essv7019060, essv7019049, essv7019032, essv7019034, essv7019029, essv7019057, essv7019053, essv7019050, essv7019020, essv7019046, essv7019067, essv7019018, essv7019021, essv7019027, essv7019042, essv7019024, essv7019019, essv7019052, essv7019030, essv7019070, essv7019035, essv7019026, essv7019031, essv7019025
SamplesRW_0196, RW_0099, RW_0538, RW_0152, RW_0141, RW_0319, RW_0181, RW_0098, RW_0271, RW_0125, RW_0624, RW_0174, RW_0115, RW_0003, RW_0131, RW_0024, RW_0544, RW_0616, RW_0293, RW_0540, RW_0103, RW_0545, RW_0171, RW_0065, RW_0280, RW_0221, RW_0204, RW_0587, RW_0625, RW_0289, RW_0067, RW_0667, RW_0120, RW_0278, RW_0669, RW_0663, RW_0190, RW_0013, RW_0048, RW_0275, RW_0229, RW_0170, RW_0079, RW_0263, RW_0191, RW_0590, RW_0060, RW_0248
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)esv2760194
Frequency
Sample Size1109
Observed Gain23
Observed Loss25
Observed Complex0
Frequencyn/a


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