A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011419



Internal ID10341718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98539334..98592297hg38UCSC Ensembl
Innerchr4:99460485..99513448hg19UCSC Ensembl
Innerchr4:99679508..99732471hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3852964
hg1952964
hg1852964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760882
Supporting Variants
SamplesRW_0253
Known GenesTSPAN5
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)essv7011419
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