A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761286



Internal ID10377593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72067117..72082214hg38UCSC Ensembl
Innerchr9:74682033..74697130hg19UCSC Ensembl
Innerchr9:73871853..73886950hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3815098
hg1915098
hg1815098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017921, essv7017924, essv7017923
SamplesRW_0032, RW_0186, RW_0033
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)esv2761286
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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