A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762896



Internal ID10375694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:13856966..13865375hg38UCSC Ensembl
Innerchr11:13878513..13886922hg19UCSC Ensembl
Innerchr11:13835089..13843498hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg388410
hg198410
hg188410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019414
SamplesRW_0144
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)esv2762896
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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