A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762772



Internal ID10375570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137320542..137524171hg38UCSC Ensembl
Innerchr8:138332785..138536414hg19UCSC Ensembl
Innerchr8:138401967..138605596hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38203630
hg19203630
hg18203630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017346
SamplesRW_0622
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)esv2762772
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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