A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5430855



Internal ID8946151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47830900..47839516hg38UCSC Ensembl
chr16:47864811..47873427hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg388617
hg198617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677533
Supporting Variants
SamplesHG00478
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5430855
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