A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761599



Internal ID10028952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104322776..104601397hg38UCSC Ensembl
Innerchr14:104789113..105067734hg19UCSC Ensembl
Innerchr14:103860158..104138779hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38278622
hg19278622
hg18278622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998747, essv6998746
SamplesSW_1021, SW_0832
Known GenesC14orf180, TMEM179
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)esv2761599
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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