A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761537



Internal ID10374335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83587542..83590889hg38UCSC Ensembl
Innerchr9:86202457..86205804hg19UCSC Ensembl
Innerchr9:85392277..85395624hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg383348
hg193348
hg183348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994324
SamplesSW_0832
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)esv2761537
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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