A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992319



Internal ID10019004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392858..7838739hg38UCSC Ensembl
Innerchr8:7250380..7696261hg19UCSC Ensembl
Innerchr8:7237790..7733671hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38445882
hg19445882
hg18495882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_1148
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
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)essv6992319
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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