A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992374



Internal ID10006659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8426157..8434235hg38UCSC Ensembl
Innerchr8:8283667..8291745hg19UCSC Ensembl
Innerchr8:8321077..8329155hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg388079
hg198079
hg188079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764098
Supporting Variants
SamplesSW_0101
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)essv6992374
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer