A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764064



Internal ID10378100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128728852..128766398hg38UCSC Ensembl
Innerchr8:129741098..129778644hg19UCSC Ensembl
Innerchr8:129810280..129847826hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3837547
hg1937547
hg1837547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993409, essv6993413, essv6993407, essv6993406, essv6993408, essv6993410
SamplesSW_0173, SW_0048, SW_1190, SW_0368, SW_1182, SW_0169
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)esv2764064
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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