A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995698



Internal ID6731648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91140635..91140958hg38UCSC Ensembl
chr8:92152863..92153186hg19UCSC Ensembl
chr8:92222039..92222362hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577463
SamplesHuRef
Known GenesLRRC69
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995698
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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