A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030414



Internal ID10355528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:698256..743723hg38UCSC Ensembl
Innerchr5:698371..743838hg19UCSC Ensembl
Innerchr5:751371..796838hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3845468
hg1945468
hg1845468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763887
Supporting Variants
SamplesSW_0253
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)essv7030414
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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