A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15429928



Internal ID5431744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24078116..24079565hg38UCSC Ensembl
Innerchr16:24078128..24079553hg38UCSC Ensembl
Outerchr16:24078104..24079577hg38UCSC Ensembl
chr16:24089437..24090886hg19UCSC Ensembl
Innerchr16:24089449..24090874hg19UCSC Ensembl
Outerchr16:24089425..24090898hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638242
Supporting Variants
SamplesHG04235
Known GenesPRKCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15429928
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