A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027558



Internal ID10358220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97724206..97748433hg38UCSC Ensembl
Innerchr3:97443050..97467277hg19UCSC Ensembl
Innerchr3:98925740..98949967hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3824228
hg1924228
hg1824228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763286
Supporting Variants
SamplesSW_0640
Known GenesEPHA6
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)essv7027558
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