A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764183



Internal ID10378219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116287675..116291483hg38UCSC Ensembl
Innerchr1:116830297..116834105hg19UCSC Ensembl
Innerchr1:116631820..116635628hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383809
hg193809
hg183809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006201, essv7006198, essv7006193, essv7006191, essv7006194, essv7006202, essv7006195, essv7006196, essv7006199, essv7006197, essv7006192
SamplesRW_0123, RW_0010, RW_0012, RW_0254, RW_0147, RW_0118, RW_0279, RW_0252, RW_0068, RW_0080, RW_0543
Known Genes
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)esv2764183
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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