A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762012



Internal ID10374810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:65425205..65458620hg38UCSC Ensembl
Innerchr18:63092441..63125856hg19UCSC Ensembl
Innerchr18:61243421..61276836hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3833416
hg1933416
hg1833416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002941
SamplesSW_1032
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)esv2762012
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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