A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669345



Internal ID9588764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17643887..17646733hg38UCSC Ensembl
chr22:18126653..18129499hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382847
hg192847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5701007, essv6449547, essv5569156, essv5631886, essv6131606, essv5869304, essv5680179, essv6573760, essv5706490, essv5600546, essv6302557, essv6330106, essv5489750
SamplesNA19338, NA19449, NA19379, NA19834, NA19467, NA19443, NA19908, NA20282, NA19457, NA19247, NA19129, NA19332, NA19130
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669345
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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