A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693039



Internal ID13336863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876586..17877784hg38UCSC Ensembl
Innerchr22:17876784..17877586hg38UCSC Ensembl
Outerchr22:17875586..17878784hg38UCSC Ensembl
chr22:18359352..18360550hg19UCSC Ensembl
Innerchr22:18359550..18360352hg19UCSC Ensembl
Outerchr22:18358352..18361550hg19UCSC Ensembl
chr22:16739352..16740550hg18UCSC Ensembl
Innerchr22:16740352..16739550hg18UCSC Ensembl
Outerchr22:16738352..16741550hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3392171
Supporting Variants
SamplesNA12878
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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