A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762049



Internal ID10029399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53541471..53726141hg38UCSC Ensembl
Innerchr19:54044725..54229395hg19UCSC Ensembl
Innerchr19:58736537..58921207hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38184671
hg19184671
hg18184671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003690
SamplesSW_0063
Known GenesDPRX, LOC284379, MIR1283-1, MIR1323, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516B2, MIR517A, MIR517B, MIR518B, MIR518C, MIR518F, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR521-2, MIR523, MIR524, MIR525, MIR526A1, MIR526B, ZNF331
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)esv2762049
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