A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760377



Internal ID10376685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24264675..24274916hg38UCSC Ensembl
Innerchr11:24286221..24296462hg19UCSC Ensembl
Innerchr11:24242797..24253038hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3810242
hg1910242
hg1810242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995828, essv6995829, essv6995830
SamplesSW_0102, SW_0172, SW_0847
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)esv2760377
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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