A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307793



Internal ID14808055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91780905..91780906hg38UCSC Ensembl
Innerchr14:91780876..91780935hg38UCSC Ensembl
Outerchr14:91780875..91780936hg38UCSC Ensembl
chr14:92247249..92247250hg19UCSC Ensembl
Innerchr14:92247220..92247279hg19UCSC Ensembl
Outerchr14:92247219..92247280hg19UCSC Ensembl
chr14:91317002..91317003hg18UCSC Ensembl
Innerchr14:91317032..91316973hg18UCSC Ensembl
Outerchr14:91316972..91317033hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38198
hg19198
hg18198
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747145, essv7763295, essv7744006, essv7745482, essv7746419, essv7749290, essv7742370
SamplesNA19114, NA19147, NA18856, NA18510, NA18858, NA18907, NA18519
Known GenesTC2N
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307793
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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