A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762594



Internal ID10375392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54294348..54303968hg38UCSC Ensembl
Innerchr6:54159146..54168766hg19UCSC Ensembl
Innerchr6:54267105..54276725hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg389621
hg199621
hg189621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013663
SamplesRW_0579
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)esv2762594
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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