A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764118



Internal ID10378154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139311345..139444302hg38UCSC Ensembl
Innerchr8:140323589..140456545hg19UCSC Ensembl
Innerchr8:140392771..140525727hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38132958
hg19132957
hg18132957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993471, essv6993472
SamplesSW_1221, SW_1368
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)esv2764118
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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