A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761290



Internal ID10377597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:22724130..22784719hg38UCSC Ensembl
Innerchr9:22724129..22784718hg19UCSC Ensembl
Innerchr9:22714129..22774718hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3860590
hg1960590
hg1860590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017615, essv7017614, essv7017613, essv7017616
SamplesRW_0181, RW_0024, RW_0568, RW_0043
Known GenesFLJ35282
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)esv2761290
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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