A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639382



Internal ID6679476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83110540..83157951hg38UCSC Ensembl
chr16:83144145..83191556hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3847412
hg1947412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545303
SamplesHG01191
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639382
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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