A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761553



Internal ID10374351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:115692663..115836092hg38UCSC Ensembl
Innerchr9:118454942..118598371hg19UCSC Ensembl
Innerchr9:117494763..117638192hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38143430
hg19143430
hg18143430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994363
SamplesSW_1448
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)esv2761553
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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