A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011899



Internal ID10004611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143996000..144091891hg38UCSC Ensembl
Innerchr4:144917153..145013044hg19UCSC Ensembl
Innerchr4:145136603..145232494hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3895892
hg1995892
hg1895892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760865
Supporting Variants
SamplesRW_0666
Known GenesGYPB
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)essv7011899
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