A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761170



Internal ID10028532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18176663..18179296hg38UCSC Ensembl
Innerchr8:18034172..18036805hg19UCSC Ensembl
Innerchr8:18078452..18081085hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382634
hg192634
hg182634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016514, essv7016516, essv7016515
SamplesRW_0204, RW_0211, RW_0653
Known GenesNAT1
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)esv2761170
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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