A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000560



Internal ID10007009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16419234..16598788hg38UCSC Ensembl
Innerchr16:16513091..16692645hg19UCSC Ensembl
Innerchr16:16420592..16600146hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38179555
hg19179555
hg18179555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762276
Supporting Variants
SamplesSW_0121
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)essv7000560
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