A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328162



Internal ID14828440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94948429..94948433hg38UCSC Ensembl
Innerchr9:94948421..94948441hg38UCSC Ensembl
Outerchr9:94948417..94948445hg38UCSC Ensembl
chr9:97710711..97710715hg19UCSC Ensembl
Innerchr9:97710703..97710723hg19UCSC Ensembl
Outerchr9:97710699..97710727hg19UCSC Ensembl
chr9:96750532..96750536hg18UCSC Ensembl
Innerchr9:96750544..96750524hg18UCSC Ensembl
Outerchr9:96750520..96750548hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677492, essv8677493, essv8677491
SamplesNA19239, NA19238, NA19240
Known GenesC9orf3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328162
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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