A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763899



Internal ID10377935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114139074..114198160hg38UCSC Ensembl
Innerchr5:113474771..113533857hg19UCSC Ensembl
Innerchr5:113502670..113561756hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3859087
hg1959087
hg1859087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031406, essv7031407
SamplesSW_0715, SW_1029
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)esv2763899
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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