A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762801



Internal ID10375599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17029572..17054627hg38UCSC Ensembl
Innerchr9:17029570..17054625hg19UCSC Ensembl
Innerchr9:17019570..17044625hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3825056
hg1925056
hg1825056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017609
SamplesRW_0322
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)esv2762801
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