A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310318



Internal ID14810583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94948429..94948430hg38UCSC Ensembl
Innerchr9:94948405..94948454hg38UCSC Ensembl
Outerchr9:94948404..94948455hg38UCSC Ensembl
chr9:97710711..97710712hg19UCSC Ensembl
Innerchr9:97710687..97710736hg19UCSC Ensembl
Outerchr9:97710686..97710737hg19UCSC Ensembl
chr9:96750532..96750533hg18UCSC Ensembl
Innerchr9:96750557..96750508hg18UCSC Ensembl
Outerchr9:96750507..96750558hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837698, essv7838986, essv7836706
SamplesNA19239, NA19238, NA19240
Known GenesC9orf3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310318
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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