A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761275



Internal ID10028637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112614181..112828682hg38UCSC Ensembl
Innerchr9:115376461..115590962hg19UCSC Ensembl
Innerchr9:114416282..114630783hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38214502
hg19214502
hg18214502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018038, essv7018037, essv7018036, essv7018039, essv7018034, essv7018035
SamplesRW_0585, RW_0318, RW_0567, RW_0217, RW_0267, RW_0361
Known GenesINIP, KIAA1958, SNX30
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)esv2761275
Frequency
Sample Size1109
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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