A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762948



Internal ID10377659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120005887..120030713hg38UCSC Ensembl
Innerchr11:119876596..119901422hg19UCSC Ensembl
Innerchr11:119381806..119406632hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3824827
hg1924827
hg1824827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020267
SamplesRW_0531
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)esv2762948
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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