A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760591



Internal ID10027953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172532177..172854792hg38UCSC Ensembl
Innerchr2:173396905..173719520hg19UCSC Ensembl
Innerchr2:173105151..173427766hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322616
hg19322616
hg18322616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008263, essv7008259, essv7008260, essv7008262, essv7008264, essv7008261, essv7008258
SamplesRW_0213, RW_0329, RW_0105, RW_0031, RW_0267, RW_0306, RW_0047
Known GenesPDK1, RAPGEF4, RAPGEF4-AS1
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)esv2760591
Frequency
Sample Size1109
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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