A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1228666



Internal ID12045104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87726509..87726581hg38UCSC Ensembl
chr16:87760115..87760187hg19UCSC Ensembl
chr16:86317616..86317688hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4148684
SamplesHuRef
Known GenesKLHDC4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1228666
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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