A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992838



Internal ID10362322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25116928..25122472hg38UCSC Ensembl
Innerchr8:24974443..24979987hg19UCSC Ensembl
Innerchr8:25030360..25035904hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385545
hg195545
hg185545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764082
Supporting Variants
SamplesSW_1032
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)essv6992838
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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