A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762761



Internal ID10030111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:102480128..102613016hg38UCSC Ensembl
Innerchr8:103492356..103625244hg19UCSC Ensembl
Innerchr8:103561532..103694420hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38132889
hg19132889
hg18132889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017124
SamplesRW_0223
Known GenesODF1
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)esv2762761
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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