A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994271



Internal ID10014580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69069453..69103543hg38UCSC Ensembl
Innerchr9:71684369..71718459hg19UCSC Ensembl
Innerchr9:70874189..70908279hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3834091
hg1934091
hg1834091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761531
Supporting Variants
SamplesSW_0874
Known GenesFXN
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)essv6994271
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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