A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764161



Internal ID10378197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:18247435..18443062hg38UCSC Ensembl
Innerchr9:18247433..18443060hg19UCSC Ensembl
Innerchr9:18237433..18433060hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38195628
hg19195628
hg18195628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993658, essv6993659, essv6993660
SamplesSW_0146, SW_0716, SW_1281
Known Genes
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)esv2764161
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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