A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007708



Internal ID10350478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77569938..77600960hg38UCSC Ensembl
Innerchr2:77797064..77828086hg19UCSC Ensembl
Innerchr2:77650572..77681594hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3831023
hg1931023
hg1831023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760608
Supporting Variants
SamplesRW_0643
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)essv7007708
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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