A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760178



Internal ID10027541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131631113..131649771hg38UCSC Ensembl
Innerchr11:131501007..131519665hg19UCSC Ensembl
Innerchr11:131006217..131024875hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3818659
hg1918659
hg1818659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020295, essv7020297, essv7020301, essv7020298, essv7020294, essv7020296, essv7020302
SamplesRW_0243, RW_0201, RW_0593, RW_0575, RW_0621, RW_0061, RW_0229
Known GenesNTM
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)esv2760178
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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