A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762386



Internal ID10029736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12281..66827hg38UCSC Ensembl
Innerchr4:12281..66719hg19UCSC Ensembl
Innerchr4:2281..56719hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3854547
hg1954439
hg1854439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114e203
Supporting Variantsessv7010197
SamplesRW_0528
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)esv2762386
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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