A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8967271



Internal ID14006019
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 StatusS
Merged Variantsesv3406882
Supporting Variants
SamplesNA18856
Known GenesTC2N
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8967271
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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