A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763260



Internal ID10375940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30745534..30789013hg38UCSC Ensembl
Innerchr22:31141521..31185000hg19UCSC Ensembl
Innerchr22:29471521..29515000hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3843480
hg1943480
hg1843480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026924
SamplesRW_0191
Known GenesOSBP2
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)esv2763260
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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