A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016205



Internal ID10333178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374772..12520778hg38UCSC Ensembl
Innerchr8:12232281..12378287hg19UCSC Ensembl
Innerchr8:12276652..12422658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38146007
hg19146007
hg18146007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761239
Supporting Variants
SamplesRW_0039
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
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)essv7016205
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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