A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763897



Internal ID10377933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:27605934..27632193hg38UCSC Ensembl
Innerchr5:27606041..27632300hg19UCSC Ensembl
Innerchr5:27641798..27668057hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3826260
hg1926260
hg1826260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030992, essv7030994, essv7030993
SamplesSW_0860, SW_1416, SW_0144
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)esv2763897
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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