A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669796



Internal ID9589215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30047508..30051873hg38UCSC Ensembl
chr22:30443497..30447862hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384366
hg194366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6516967, essv6447339, essv6225456, essv5817378
SamplesNA19257, NA19189, NA19399, NA18499
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669796
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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