A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762327



Internal ID10029677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45097609..45107182hg38UCSC Ensembl
Innerchr3:45139101..45148674hg19UCSC Ensembl
Innerchr3:45114105..45123678hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389574
hg199574
hg189574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008982
SamplesRW_0020
Known GenesCDCP1
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)esv2762327
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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