A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809039



Internal ID13301192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29120358..29120365hg38UCSC Ensembl
Innerchr22:29120357..29120366hg38UCSC Ensembl
Outerchr22:29120248..29120485hg38UCSC Ensembl
chr22:29516346..29516353hg19UCSC Ensembl
Innerchr22:29516345..29516354hg19UCSC Ensembl
Outerchr22:29516236..29516473hg19UCSC Ensembl
chr22:27846346..27846353hg18UCSC Ensembl
Innerchr22:27846354..27846345hg18UCSC Ensembl
Outerchr22:27846236..27846473hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38635
hg19635
hg18635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446692
Supporting Variants
SamplesNA12878
Known GenesKREMEN1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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