A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761986



Internal ID10029336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2532931..2885250hg38UCSC Ensembl
Innerchr18:2532930..2885248hg19UCSC Ensembl
Innerchr18:2522930..2875248hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38352320
hg19352319
hg18352319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002687
SamplesSW_1006
Known GenesCBX3P2, EMILIN2, METTL4, NDC80, SMCHD1
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)esv2761986
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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