A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763798



Internal ID10377834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167778077..168071290hg38UCSC Ensembl
Innerchr4:168699228..168992441hg19UCSC Ensembl
Innerchr4:168935803..169229016hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38293214
hg19293214
hg18293214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030288, essv7030291, essv7030289, essv7030292
SamplesSW_0058, SW_1334, SW_0678, SW_0148
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)esv2763798
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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