A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997432



Internal ID10358689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69203865..69226202hg38UCSC Ensembl
Innerchr12:69597645..69619982hg19UCSC Ensembl
Innerchr12:67883912..67906249hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3822338
hg1922338
hg1822338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761746
Supporting Variants
SamplesSW_0673
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)essv6997432
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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