A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764096



Internal ID10378132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54771824..55095548hg38UCSC Ensembl
Innerchr8:55684384..56008108hg19UCSC Ensembl
Innerchr8:55846938..56170662hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38323725
hg19323725
hg18323725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993176, essv6993177
SamplesSW_0621, SW_1206
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)esv2764096
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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