A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428947



Internal ID15275903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46063171..46063190hg38UCSC Ensembl
Innerchr22:46063167..46063194hg38UCSC Ensembl
Outerchr22:46063148..46063213hg38UCSC Ensembl
chr22:46459051..46459070hg19UCSC Ensembl
Innerchr22:46459047..46459074hg19UCSC Ensembl
Outerchr22:46459028..46459093hg19UCSC Ensembl
chr22:44837715..44837734hg18UCSC Ensembl
Innerchr22:44837738..44837711hg18UCSC Ensembl
Outerchr22:44837692..44837757hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9681080
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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