A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762721



Internal ID10375519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:55641696..55656160hg38UCSC Ensembl
Innerchr18:53308927..53323391hg19UCSC Ensembl
Innerchr18:51459925..51474389hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3814465
hg1914465
hg1814465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002920, essv7002919
SamplesSW_0577, SW_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)esv2762721
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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