A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761984



Internal ID10029334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:724222..855263hg38UCSC Ensembl
Innerchr18:724222..855264hg19UCSC Ensembl
Innerchr18:714222..845264hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38131042
hg19131043
hg18131043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002676
SamplesSW_0847
Known GenesYES1
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)esv2761984
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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