A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019186



Internal ID9995058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4947280..4955042hg38UCSC Ensembl
Innerchr11:4968510..4976272hg19UCSC Ensembl
Innerchr11:4925086..4932848hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387763
hg197763
hg187763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760169
Supporting Variants
SamplesRW_0253
Known GenesOR51A2
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)essv7019186
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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