A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026936



Internal ID9995829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36390921..36613817hg38UCSC Ensembl
Innerchr22:36786966..37009864hg19UCSC Ensembl
Innerchr22:35116912..35339810hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38222897
hg19222899
hg18222899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760722
Supporting Variants
SamplesRW_0272
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)essv7026936
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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