A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016876



Internal ID9990620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67631798..67637971hg38UCSC Ensembl
Innerchr8:68544033..68550206hg19UCSC Ensembl
Innerchr8:68706587..68712760hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg386174
hg196174
hg186174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761195
Supporting Variants
SamplesRW_0149
Known GenesCPA6
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)essv7016876
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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