A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406882



Internal ID14907158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91780905..91780922hg38UCSC Ensembl
Innerchr14:91780904..91780923hg38UCSC Ensembl
Outerchr14:91780887..91780940hg38UCSC Ensembl
chr14:92247249..92247266hg19UCSC Ensembl
Innerchr14:92247248..92247267hg19UCSC Ensembl
Outerchr14:92247231..92247284hg19UCSC Ensembl
chr14:91317002..91317019hg18UCSC Ensembl
Innerchr14:91317020..91317001hg18UCSC Ensembl
Outerchr14:91316984..91317037hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8967277, essv8967272, essv8967276, essv8967274, essv8967271, essv8967273, essv8967275
SamplesNA18510, NA18519, NA18907, NA19114, NA18856, NA18858, NA19147
Known GenesTC2N
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406882
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer