A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023838



Internal ID9992264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33498427..34009034hg38UCSC Ensembl
Innerchr16:33300894..33811501hg19UCSC Ensembl
Innerchr16:33208395..33719002hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38510608
hg19510608
hg18510608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760413
Supporting Variants
SamplesRW_0189
Known GenesRNU6-76P
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)essv7023838
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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