A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992343



Internal ID10021158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409843..7941868hg38UCSC Ensembl
Innerchr8:7267365..7799390hg19UCSC Ensembl
Innerchr8:7254775..7836800hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38532026
hg19532026
hg18582026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_1242
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
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)essv6992343
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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