A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009176



Internal ID10333461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:69364725..69463052hg38UCSC Ensembl
Innerchr3:69413876..69512203hg19UCSC Ensembl
Innerchr3:69496566..69594893hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3898328
hg1998328
hg1898328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760780
Supporting Variants
SamplesRW_0048
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)essv7009176
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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