A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002919



Internal ID10354947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:55641696..55651357hg38UCSC Ensembl
Innerchr18:53308927..53318588hg19UCSC Ensembl
Innerchr18:51459925..51469586hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389662
hg199662
hg189662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762721
Supporting Variants
SamplesSW_0198
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)essv7002919
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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