A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760948



Internal ID10377255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163744033..163753993hg38UCSC Ensembl
Innerchr5:163171039..163180999hg19UCSC Ensembl
Innerchr5:163103617..163113577hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389961
hg199961
hg189961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013307, essv7013308
SamplesRW_0281, RW_0335
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)esv2760948
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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