A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760754



Internal ID10377061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:139425773..139446032hg38UCSC Ensembl
Innerchr3:139144615..139164874hg19UCSC Ensembl
Innerchr3:140627305..140647564hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3820260
hg1920260
hg1820260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009490, essv7009487, essv7009489
SamplesRW_0267, RW_0053, RW_0031
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)esv2760754
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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