A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761434



Internal ID10028791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:64665910..65655443hg38UCSC Ensembl
Innerchr8:65578467..66567678hg19UCSC Ensembl
Innerchr8:65741021..66730232hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38989534
hg19989212
hg18989212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993197
SamplesSW_0159
Known GenesARMC1, CYP7B1, LINC00251, LOC286186, MTFR1
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)esv2761434
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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