A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762359



Internal ID10375157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:163243432..163632808hg38UCSC Ensembl
Innerchr3:162961220..163350596hg19UCSC Ensembl
Innerchr3:164443914..164833290hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38389377
hg19389377
hg18389377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009741
SamplesRW_0180
Known GenesCT64
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)esv2762359
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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