A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14949902



Internal ID4588529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28002435..28051026hg38UCSC Ensembl
Innerchr14:28002435..28051026hg38UCSC Ensembl
Outerchr14:28001935..28051526hg38UCSC Ensembl
chr14:28471641..28520232hg19UCSC Ensembl
Innerchr14:28471641..28520232hg19UCSC Ensembl
Outerchr14:28471141..28520732hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3848592
hg1948592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633897
Supporting Variants
SamplesHG04099
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14949902
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