A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638642



Internal ID6678739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53057939..53061216hg38UCSC Ensembl
chr16:53091851..53095128hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv521e214
Supporting Variantsessv15478714, essv15478713, essv15478712
SamplesNA20904, NA21102, HG04171
Known GenesCHD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638642
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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