A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003691



Internal ID10361294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53853169..53864916hg38UCSC Ensembl
Innerchr19:54356423..54368170hg19UCSC Ensembl
Innerchr19:59048235..59059982hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3811748
hg1911748
hg1811748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762050
Supporting Variants
SamplesSW_0875
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)essv7003691
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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