A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009175



Internal ID10344843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:69364725..69449228hg38UCSC Ensembl
Innerchr3:69413876..69498379hg19UCSC Ensembl
Innerchr3:69496566..69581069hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3884504
hg1984504
hg1884504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760780
Supporting Variants
SamplesRW_0356
Known GenesFRMD4B
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)essv7009175
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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