A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029211



Internal ID10355990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34784878..34828382hg38UCSC Ensembl
Innerchr4:34786500..34830004hg19UCSC Ensembl
Innerchr4:34462895..34506399hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3843505
hg1943505
hg1843505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763797
Supporting Variants
SamplesSW_0323
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)essv7029211
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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