A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638335



Internal ID6678433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28485966..28486958hg38UCSC Ensembl
Innerchr16:28485966..28486958hg38UCSC Ensembl
Outerchr16:28485671..28487290hg38UCSC Ensembl
chr16:28497287..28498279hg19UCSC Ensembl
Innerchr16:28497287..28498279hg19UCSC Ensembl
Outerchr16:28496992..28498611hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15440045, essv15440044
SamplesHG00154, NA07037
Known GenesCLN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638335
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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