A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024545



Internal ID10366803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5214484..5409915hg38UCSC Ensembl
Innerchr3:5256169..5451601hg19UCSC Ensembl
Innerchr3:5231169..5426601hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38195432
hg19195433
hg18195433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763733
Supporting Variants
SamplesSW_1197
Known GenesEDEM1, MIR4790
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)essv7024545
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