A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761691



Internal ID10374489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88414155..88422004hg38UCSC Ensembl
Innerchr11:88147323..88155172hg19UCSC Ensembl
Innerchr11:87786971..87794820hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg387850
hg197850
hg187850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996234
SamplesSW_1308
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)esv2761691
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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