A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012779



Internal ID10346413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50168472..50328524hg38UCSC Ensembl
Innerchr5:49464306..49624358hg19UCSC Ensembl
Innerchr5:49500063..49660115hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38160053
hg19160053
hg18160053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760950
Supporting Variants
SamplesRW_0535
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)essv7012779
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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