A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760271



Internal ID10376579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125156485..125167613hg38UCSC Ensembl
Innerchr12:125641031..125652159hg19UCSC Ensembl
Innerchr12:124206984..124218112hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3811129
hg1911129
hg1811129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021106, essv7021105
SamplesRW_0017, RW_0276
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)esv2760271
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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