A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762877



Internal ID10030227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4308100..4313642hg38UCSC Ensembl
Innerchr18:4308100..4313642hg19UCSC Ensembl
Innerchr18:4298100..4303642hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg385543
hg195543
hg185543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002691, essv7002688, essv7002690
SamplesSW_1419, SW_0653, SW_0101
Known GenesDLGAP1
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)esv2762877
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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