A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653127



Internal ID13668956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81012249..81012249hg38UCSC Ensembl
Innerchr14:81012248..81012250hg38UCSC Ensembl
Outerchr14:81012199..81012299hg38UCSC Ensembl
chr14:81478593..81478593hg19UCSC Ensembl
Innerchr14:81478592..81478594hg19UCSC Ensembl
Outerchr14:81478543..81478643hg19UCSC Ensembl
chr14:80548346..80548346hg18UCSC Ensembl
Innerchr14:80548347..80548345hg18UCSC Ensembl
Outerchr14:80548296..80548396hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382100
hg192100
hg182100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426031
Supporting Variants
SamplesNA12878
Known GenesTSHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653127
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