A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693140



Internal ID15115321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20337929..20339427hg38UCSC Ensembl
Innerchr22:20338427..20338929hg38UCSC Ensembl
Outerchr22:20336929..20340427hg38UCSC Ensembl
chr22:20325452..20326950hg19UCSC Ensembl
Innerchr22:20325950..20326452hg19UCSC Ensembl
Outerchr22:20324452..20327950hg19UCSC Ensembl
chr22:18705452..18706950hg18UCSC Ensembl
Innerchr22:18706452..18705950hg18UCSC Ensembl
Outerchr22:18704452..18707950hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3330850
Supporting Variants
SamplesNA19240
Known GenesLOC729444
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693140
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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