A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309064



Internal ID14809327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45306332..45306333hg38UCSC Ensembl
Innerchr17:45306305..45306360hg38UCSC Ensembl
Outerchr17:45306304..45306361hg38UCSC Ensembl
chr17:43383698..43383699hg19UCSC Ensembl
Innerchr17:43383671..43383726hg19UCSC Ensembl
Outerchr17:43383670..43383727hg19UCSC Ensembl
chr17:40739481..40739482hg18UCSC Ensembl
Innerchr17:40739509..40739454hg18UCSC Ensembl
Outerchr17:40739453..40739510hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838693
SamplesNA19238
Known GenesMAP3K14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309064
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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