A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5751293



Internal ID9604004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30485832..30492579hg38UCSC Ensembl
chr14:30955038..30961785hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386748
hg196748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664244
Supporting Variants
SamplesNA19247
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5751293
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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