A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5550360



Internal ID9451129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34834947..34837581hg38UCSC Ensembl
chr14:35304153..35306787hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382635
hg192635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667232
Supporting Variants
SamplesNA18871
Known GenesBAZ1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5550360
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