A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306309



Internal ID15153257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59869065..59869066hg38UCSC Ensembl
Innerchr14:59868904..59869227hg38UCSC Ensembl
Outerchr14:59868903..59869228hg38UCSC Ensembl
chr14:60335783..60335784hg19UCSC Ensembl
Innerchr14:60335622..60335945hg19UCSC Ensembl
Outerchr14:60335621..60335946hg19UCSC Ensembl
chr14:59405536..59405537hg18UCSC Ensembl
Innerchr14:59405698..59405375hg18UCSC Ensembl
Outerchr14:59405374..59405699hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754336, essv7754137, essv7747471
SamplesNA11994, NA18853, NA12154
Known GenesRTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306309
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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