A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998799



Internal ID6734731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88731962..88732995hg38UCSC Ensembl
Outerchr16:88798370..88799403hg19UCSC Ensembl
Outerchr16:87325871..87326904hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382639
hg192639
hg182639
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564742
SamplesHuRef
Known GenesLOC100289580, PIEZO1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998799
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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