A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992788



Internal ID10373739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16404726..16417152hg38UCSC Ensembl
Innerchr8:16262235..16274661hg19UCSC Ensembl
Innerchr8:16306606..16319032hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3812427
hg1912427
hg1812427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764112
Supporting Variants
SamplesSW_1517
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)essv6992788
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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