A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994455



Internal ID10021303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:22798369..22932041hg38UCSC Ensembl
Innerchr10:23087298..23220970hg19UCSC Ensembl
Innerchr10:23127304..23260976hg18UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38133673
hg19133673
hg18133673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764013
Supporting Variants
SamplesSW_1246
Known GenesARMC3
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)essv6994455
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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