A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761508



Internal ID10028865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:22400969..22819939hg38UCSC Ensembl
Innerchr9:22400968..22819938hg19UCSC Ensembl
Innerchr9:22390968..22809938hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38418971
hg19418971
hg18418971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993669
SamplesSW_0323
Known GenesDMRTA1, FLJ35282
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)esv2761508
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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