A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012396



Internal ID10339391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:698256..801650hg38UCSC Ensembl
Innerchr5:698371..801765hg19UCSC Ensembl
Innerchr5:751371..854765hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38103395
hg19103395
hg18103395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760933
Supporting Variants
SamplesRW_0197
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)essv7012396
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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