A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761481



Internal ID10374279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5024345..5040486hg38UCSC Ensembl
Innerchr9:5024345..5040486hg19UCSC Ensembl
Innerchr9:5014345..5030486hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3816142
hg1916142
hg1816142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993526
SamplesSW_0584
Known GenesJAK2
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)esv2761481
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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