A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762813



Internal ID10030163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33139254..33261075hg38UCSC Ensembl
Innerchr9:33139252..33261073hg19UCSC Ensembl
Innerchr9:33129252..33251073hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38121822
hg19121822
hg18121822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017661
SamplesRW_0141
Known GenesB4GALT1, BAG1, LOC101929639, SPINK4
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)esv2762813
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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