A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761181



Internal ID10377488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:122047592..122050320hg38UCSC Ensembl
Innerchr8:123059831..123062559hg19UCSC Ensembl
Innerchr8:123129012..123131740hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382729
hg192729
hg182729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017283, essv7017284
SamplesRW_0359, RW_0250
Known Genes
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)esv2761181
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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