A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761657



Internal ID10374455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20706271..20726505hg38UCSC Ensembl
Innerchr11:20727817..20748051hg19UCSC Ensembl
Innerchr11:20684393..20704627hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3820235
hg1920235
hg1820235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995821
SamplesSW_1476
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)esv2761657
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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