A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763185



Internal ID10375865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:38453002..38483901hg38UCSC Ensembl
Innerchr18:36032966..36063865hg19UCSC Ensembl
Innerchr18:34286964..34317863hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3830900
hg1930900
hg1830900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024929
SamplesRW_0541
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)esv2763185
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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