A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013399



Internal ID10341283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177963074..177967035hg38UCSC Ensembl
Innerchr5:177390075..177394036hg19UCSC Ensembl
Innerchr5:177322681..177326642hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383962
hg193962
hg183962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760946
Supporting Variants
SamplesRW_0239
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)essv7013399
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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