A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761264



Internal ID10028626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133054342..133082053hg38UCSC Ensembl
Innerchr9:135929729..135957440hg19UCSC Ensembl
Innerchr9:134919550..134947261hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3827712
hg1927712
hg1827712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018107, essv7018108
SamplesRW_0179, RW_0639
Known GenesCEL, GTF3C5
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)esv2761264
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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