A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762022



Internal ID10029372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4840987..4886538hg38UCSC Ensembl
Innerchr19:4840999..4886550hg19UCSC Ensembl
Innerchr19:4791999..4837550hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3845552
hg1945552
hg1845552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003179
SamplesSW_0020
Known GenesPLIN3
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)esv2762022
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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