A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761406



Internal ID10374204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:9978810..9986874hg38UCSC Ensembl
Innerchr8:9836320..9844384hg19UCSC Ensembl
Innerchr8:9873730..9881794hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg388065
hg198065
hg188065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992410
SamplesSW_1128
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)esv2761406
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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