A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031221



Internal ID10355771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67534880..67580331hg38UCSC Ensembl
Innerchr5:66830708..66876159hg19UCSC Ensembl
Innerchr5:66866464..66911915hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3845452
hg1945452
hg1845452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763460
Supporting Variants
SamplesSW_0271
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)essv7031221
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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