A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309096



Internal ID14809359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30970443..30970444hg38UCSC Ensembl
Innerchr15:30970413..30970474hg38UCSC Ensembl
Outerchr15:30970412..30970475hg38UCSC Ensembl
chr15:31262646..31262647hg19UCSC Ensembl
Innerchr15:31262616..31262677hg19UCSC Ensembl
Outerchr15:31262615..31262678hg19UCSC Ensembl
chr15:29049938..29049939hg18UCSC Ensembl
Innerchr15:29049969..29049908hg18UCSC Ensembl
Outerchr15:29049907..29049970hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838500, essv7837856, essv7836776
SamplesNA19238, NA19239, NA12892
Known GenesMTMR10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309096
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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