A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836347



Internal ID13500505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94948419..94948420hg38UCSC Ensembl
Innerchr9:94948402..94948437hg38UCSC Ensembl
Outerchr9:94948401..94948438hg38UCSC Ensembl
chr9:97710701..97710702hg19UCSC Ensembl
Innerchr9:97710684..97710719hg19UCSC Ensembl
Outerchr9:97710683..97710720hg19UCSC Ensembl
chr9:96750522..96750523hg18UCSC Ensembl
Innerchr9:96750540..96750505hg18UCSC Ensembl
Outerchr9:96750504..96750541hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307403
Supporting Variants
SamplesNA18510
Known GenesC9orf3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836347
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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