A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393497



Internal ID15240462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30218058..30218077hg38UCSC Ensembl
Innerchr22:30218054..30218081hg38UCSC Ensembl
Outerchr22:30218035..30218100hg38UCSC Ensembl
chr22:30614047..30614066hg19UCSC Ensembl
Innerchr22:30614043..30614070hg19UCSC Ensembl
Outerchr22:30614024..30614089hg19UCSC Ensembl
chr22:28944047..28944066hg18UCSC Ensembl
Innerchr22:28944070..28944043hg18UCSC Ensembl
Outerchr22:28944024..28944089hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9680879
SamplesNA12043
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393497
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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