A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012758



Internal ID10334188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:46209197..46389171hg38UCSC Ensembl
Innerchr5:46209299..46389273hg19UCSC Ensembl
Innerchr5:46245056..46425030hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38179975
hg19179975
hg18179975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760937
Supporting Variants
SamplesRW_0069
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)essv7012758
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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