A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374924



Internal ID15221899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109187434..109187453hg38UCSC Ensembl
Innerchr9:109187430..109187457hg38UCSC Ensembl
Outerchr9:109187411..109187476hg38UCSC Ensembl
chr9:111949714..111949733hg19UCSC Ensembl
Innerchr9:111949710..111949737hg19UCSC Ensembl
Outerchr9:111949691..111949756hg19UCSC Ensembl
chr9:110989535..110989554hg18UCSC Ensembl
Innerchr9:110989558..110989531hg18UCSC Ensembl
Outerchr9:110989512..110989577hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9644903, essv9644880, essv9644892
SamplesNA12812, NA18970, NA11894
Known GenesEPB41L4B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374924
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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