A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422229



Internal ID1219995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31248172..31355157hg38UCSC Ensembl
Innerchr6:31215949..31322934hg19UCSC Ensembl
Innerchr6:31323928..31430913hg18UCSC Ensembl
Innerchr6:31323928..31430913hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38106986
hg19106986
hg18106986
hg17106986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161346
SamplesND04903
Known GenesHLA-B, HLA-C
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422229
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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