A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026925



Internal ID10002471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33435362..33892401hg38UCSC Ensembl
Innerchr22:33831348..34288389hg19UCSC Ensembl
Innerchr22:32161348..32618389hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38457040
hg19457042
hg18457042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763261
Supporting Variants
SamplesRW_0607
Known GenesLARGE, LARGE-AS1, MIR4764
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)essv7026925
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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