A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992333



Internal ID10005837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392858..7952384hg38UCSC Ensembl
Innerchr8:7250380..7809906hg19UCSC Ensembl
Innerchr8:7237790..7847316hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38559527
hg19559527
hg18609527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_0049
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)essv6992333
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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