A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017363



Internal ID9990807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144932802..145072769hg38UCSC Ensembl
Innerchr8:146158188..146298155hg19UCSC Ensembl
Innerchr8:146128992..146268959hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38139968
hg19139968
hg18139968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761199
Supporting Variants
SamplesRW_0156
Known GenesC8orf33, TMED10P1, ZNF16, ZNF252P, ZNF252P-AS1
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)essv7017363
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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