A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011693



Internal ID10344902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117463578..117475046hg38UCSC Ensembl
Innerchr4:118384733..118396201hg19UCSC Ensembl
Innerchr4:118604181..118615649hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3811469
hg1911469
hg1811469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760886
Supporting Variants
SamplesRW_0357
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)essv7011693
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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