A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012691



Internal ID10332725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18608281..18666713hg38UCSC Ensembl
Innerchr5:18608390..18666822hg19UCSC Ensembl
Innerchr5:18644147..18702579hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3858433
hg1958433
hg1858433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760971
Supporting Variants
SamplesRW_0029
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)essv7012691
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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