A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762380



Internal ID10029730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12281..66086hg38UCSC Ensembl
Innerchr4:12281..65978hg19UCSC Ensembl
Innerchr4:2281..55978hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3853806
hg1953698
hg1853698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e203
Supporting Variantsessv7010191
SamplesRW_0070
Known GenesZNF595, ZNF718
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)esv2762380
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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