A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012350



Internal ID10338642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184260123..184307474hg38UCSC Ensembl
Innerchr4:185181276..185228627hg19UCSC Ensembl
Innerchr4:185418270..185465621hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3847352
hg1947352
hg1847352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760885
Supporting Variants
SamplesRW_0184
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)essv7012350
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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