A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6131606



Internal ID9109009
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 Flag1
Merged StatusS
Merged Variantsesv2669345
Supporting Variants
SamplesNA19379
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6131606
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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