A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760179



Internal ID10027542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3631663..3655866hg38UCSC Ensembl
Innerchr11:3652893..3677096hg19UCSC Ensembl
Innerchr11:3609469..3633672hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824204
hg1924204
hg1824204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019016, essv7019015
SamplesRW_0169, RW_0643
Known GenesART1, ART5, TRPC2
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)esv2760179
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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