A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764101



Internal ID10378137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85773606..85906653hg38UCSC Ensembl
Innerchr8:86785835..86918882hg19UCSC Ensembl
Innerchr8:86870618..86987998hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38133048
hg19133048
hg18117381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993248, essv6993249
SamplesSW_1466, SW_1520
Known GenesREXO1L1, REXO1L2P
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)esv2764101
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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