A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762745



Internal ID10375543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:63926136..63938168hg38UCSC Ensembl
Innerchr8:64838693..64850725hg19UCSC Ensembl
Innerchr8:65001247..65013279hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3812033
hg1912033
hg1812033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016823
SamplesRW_0114
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)esv2762745
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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