A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307202



Internal ID14807464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109149979..109149980hg38UCSC Ensembl
Innerchr9:109149957..109150002hg38UCSC Ensembl
Outerchr9:109149956..109150003hg38UCSC Ensembl
chr9:111912259..111912260hg19UCSC Ensembl
Innerchr9:111912237..111912282hg19UCSC Ensembl
Outerchr9:111912236..111912283hg19UCSC Ensembl
chr9:110952080..110952081hg18UCSC Ensembl
Innerchr9:110952103..110952058hg18UCSC Ensembl
Outerchr9:110952057..110952104hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764301, essv7765159
SamplesNA12812, NA12874
Known GenesFRRS1L
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307202
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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