A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618868



Internal ID7005750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132049608..132067753hg38UCSC Ensembl
chr8:133061855..133080000hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3818146
hg1918146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13335036
SamplesHG02678
Known GenesHHLA1, OC90
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618868
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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