A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760281



Internal ID10376589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:106052896..106069138hg38UCSC Ensembl
Innerchr13:106705245..106721487hg19UCSC Ensembl
Innerchr13:105503246..105519488hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3816243
hg1916243
hg1816243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021817, essv7021816, essv7021818
SamplesRW_0093, RW_0304, RW_0021
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)esv2760281
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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