A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762807



Internal ID10375605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27853135..27882219hg38UCSC Ensembl
Innerchr9:27853133..27882217hg19UCSC Ensembl
Innerchr9:27843133..27872217hg18UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3829085
hg1929085
hg1829085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017646
SamplesRW_0653
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)esv2762807
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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