A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637713



Internal ID6677814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4957958..5307305hg38UCSC Ensembl
chr16:5007959..5357306hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38349348
hg19349348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363838
SamplesHG02816
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637713
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