A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760722



Internal ID10028084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36390921..36617980hg38UCSC Ensembl
Innerchr22:36786966..37014027hg19UCSC Ensembl
Innerchr22:35116912..35343973hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38227060
hg19227062
hg18227062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026936, essv7026937, essv7026938, essv7026939
SamplesRW_0136, RW_0272, RW_0608, RW_0666
Known GenesCACNG2, EIF3D, FOXRED2, TXN2
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)esv2760722
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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