A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763802



Internal ID14911987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5103299..5103300hg38UCSC Ensembl
Innerchr9:5103277..5103322hg38UCSC Ensembl
Outerchr9:5103276..5103323hg38UCSC Ensembl
chr9:5103299..5103300hg19UCSC Ensembl
Innerchr9:5103277..5103322hg19UCSC Ensembl
Outerchr9:5103276..5103323hg19UCSC Ensembl
chr9:5093299..5093300hg18UCSC Ensembl
Innerchr9:5093322..5093277hg18UCSC Ensembl
Outerchr9:5093276..5093323hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303665
Supporting Variants
SamplesNA19143
Known GenesJAK2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763802
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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