A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760715



Internal ID10028077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36218264..36317486hg38UCSC Ensembl
Innerchr22:36614310..36713531hg19UCSC Ensembl
Innerchr22:34944256..35043477hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3899223
hg1999222
hg1899222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026932, essv7026931, essv7026934, essv7026935
SamplesRW_0614, RW_0600, RW_0361, RW_0263
Known GenesAPOL1, APOL2, MIR6819, MYH9
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)esv2760715
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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