A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763346



Internal ID10376026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:24447428..24461877hg38UCSC Ensembl
Innerchr4:24449051..24463500hg19UCSC Ensembl
Innerchr4:24058149..24072598hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3814450
hg1914450
hg1814450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029027
SamplesSW_0030
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)esv2763346
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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