A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029225



Internal ID10360734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36013359..36013896hg38UCSC Ensembl
Innerchr4:36014981..36015518hg19UCSC Ensembl
Innerchr4:35691376..35691913hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763349
Supporting Variants
SamplesSW_0843
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)essv7029225
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