A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762038



Internal ID10374836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38953777..38964908hg38UCSC Ensembl
Innerchr19:39444417..39455548hg19UCSC Ensembl
Innerchr19:44136257..44147388hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3811132
hg1911132
hg1811132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003388
SamplesSW_1288
Known GenesFBXO17
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)esv2762038
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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