A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14946961



Internal ID393878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:27009293..27238909hg38UCSC Ensembl
Innerchr14:27009329..27238874hg38UCSC Ensembl
Outerchr14:27009258..27238945hg38UCSC Ensembl
chr14:27478499..27708115hg19UCSC Ensembl
Innerchr14:27478535..27708080hg19UCSC Ensembl
Outerchr14:27478464..27708151hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38229617
hg19229617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633866
Supporting Variants
SamplesHG00116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14946961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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