A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020218



Internal ID9997079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101037939..101042963hg38UCSC Ensembl
Innerchr11:100908670..100913694hg19UCSC Ensembl
Innerchr11:100413880..100418904hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg385025
hg195025
hg185025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762939
Supporting Variants
SamplesRW_0314
Known GenesPGR
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)essv7020218
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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