A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761425



Internal ID10374223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:48745507..48757042hg38UCSC Ensembl
Innerchr8:49658066..49669601hg19UCSC Ensembl
Innerchr8:49820619..49832154hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3811536
hg1911536
hg1811536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993147
SamplesSW_0702
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)esv2761425
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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