A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017612



Internal ID10344181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21258109..21281545hg38UCSC Ensembl
Innerchr9:21258108..21281544hg19UCSC Ensembl
Innerchr9:21248108..21271544hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3823437
hg1923437
hg1823437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761295
Supporting Variants
SamplesRW_0328
Known GenesIFNA22P
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)essv7017612
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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