A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761267



Internal ID10377574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5081416..5081953hg38UCSC Ensembl
Innerchr9:5081416..5081953hg19UCSC Ensembl
Innerchr9:5071416..5071953hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017485, essv7017486
SamplesRW_0216, RW_0558
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)esv2761267
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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