A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9642270



Internal ID14912164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5103290..5103309hg38UCSC Ensembl
Innerchr9:5103286..5103313hg38UCSC Ensembl
Outerchr9:5103267..5103332hg38UCSC Ensembl
chr9:5103290..5103309hg19UCSC Ensembl
Innerchr9:5103286..5103313hg19UCSC Ensembl
Outerchr9:5103267..5103332hg19UCSC Ensembl
chr9:5093290..5093309hg18UCSC Ensembl
Innerchr9:5093313..5093286hg18UCSC Ensembl
Outerchr9:5093267..5093332hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359627
Supporting Variants
SamplesNA19143
Known GenesJAK2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9642270
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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