A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762019



Internal ID10029369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2503630..2519855hg38UCSC Ensembl
Innerchr19:2503628..2519853hg19UCSC Ensembl
Innerchr19:2454628..2470853hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3816226
hg1916226
hg1816226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003176
SamplesSW_0665
Known GenesGNG7
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)esv2762019
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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