A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012498



Internal ID10333690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:790474..874903hg38UCSC Ensembl
Innerchr5:790589..875018hg19UCSC Ensembl
Innerchr5:843589..928018hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3884430
hg1984430
hg1884430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760933
Supporting Variants
SamplesRW_0057
Known GenesBRD9, ZDHHC11
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)essv7012498
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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