A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995200



Internal ID10006456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:94207011..94543944hg38UCSC Ensembl
Innerchr10:95966768..96303701hg19UCSC Ensembl
Innerchr10:95956758..96293691hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38336934
hg19336934
hg18336934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761616
Supporting Variants
SamplesSW_0089
Known GenesNOC3L, PLCE1, PLCE1-AS1, TBC1D12
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)essv6995200
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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