A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638930



Internal ID6679027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69735814..69773243hg38UCSC Ensembl
Innerchr16:69735964..69773093hg38UCSC Ensembl
Outerchr16:69735664..69773393hg38UCSC Ensembl
chr16:69769717..69807146hg19UCSC Ensembl
Innerchr16:69769867..69806996hg19UCSC Ensembl
Outerchr16:69769567..69807296hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3837430
hg1937430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503749
SamplesHG02079
Known GenesNOB1, WWP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638930
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