A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030532



Internal ID10370402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:717264..852451hg38UCSC Ensembl
Innerchr5:717379..852566hg19UCSC Ensembl
Innerchr5:770379..905566hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38135188
hg19135188
hg18135188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763887
Supporting Variants
SamplesSW_1356
Known GenesZDHHC11
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)essv7030532
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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