A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762392



Internal ID10029742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12281..69821hg38UCSC Ensembl
Innerchr4:12281..69713hg19UCSC Ensembl
Innerchr4:2281..59713hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3857541
hg1957433
hg1857433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e203
Supporting Variantsessv7010203
SamplesRW_0315
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)esv2762392
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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