A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017164



Internal ID10335430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:110961160..111148055hg38UCSC Ensembl
Innerchr8:111973389..112160284hg19UCSC Ensembl
Innerchr8:112042565..112229460hg18UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg38186896
hg19186896
hg18186896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762764
Supporting Variants
SamplesRW_0104
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)essv7017164
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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