A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011412



Internal ID10345336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91973569..92021553hg38UCSC Ensembl
Innerchr4:92894720..92942704hg19UCSC Ensembl
Innerchr4:93113743..93161727hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3847985
hg1947985
hg1847985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760904
Supporting Variants
SamplesRW_0507
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)essv7011412
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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