A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010550



Internal ID10341323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:13113325..13145037hg38UCSC Ensembl
Innerchr4:13114949..13146661hg19UCSC Ensembl
Innerchr4:12724047..12755759hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3831713
hg1931713
hg1831713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762408
Supporting Variants
SamplesRW_0239
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)essv7010550
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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