A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760277



Internal ID10376585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:21407589..21421613hg38UCSC Ensembl
Innerchr11:21429135..21443159hg19UCSC Ensembl
Innerchr11:21385711..21399735hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3814025
hg1914025
hg1814025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995823, essv6995824
SamplesSW_0085, SW_1465
Known GenesNELL1
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)esv2760277
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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