A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030605



Internal ID10360478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6814096..6821592hg38UCSC Ensembl
Innerchr5:6814209..6821705hg19UCSC Ensembl
Innerchr5:6867209..6874705hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg387497
hg197497
hg187497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763432
Supporting Variants
SamplesSW_0833
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)essv7030605
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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