A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993274



Internal ID10351459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:102382374..102402007hg38UCSC Ensembl
Innerchr8:103394602..103414235hg19UCSC Ensembl
Innerchr8:103463778..103483411hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3819634
hg1919634
hg1819634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761454
Supporting Variants
SamplesSW_0002
Known GenesUBR5
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)essv6993274
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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