A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501229



Internal ID5503045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66487240..66488758hg38UCSC Ensembl
Innerchr16:66487242..66488757hg38UCSC Ensembl
Outerchr16:66487239..66488760hg38UCSC Ensembl
chr16:66521143..66522661hg19UCSC Ensembl
Innerchr16:66521145..66522660hg19UCSC Ensembl
Outerchr16:66521142..66522663hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638870
Supporting Variants
SamplesHG02573
Known GenesBEAN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501229
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