A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8699659



Internal ID13687906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46509245..46510044hg38UCSC Ensembl
Innerchr22:46509305..46509975hg38UCSC Ensembl
Outerchr22:46509155..46510085hg38UCSC Ensembl
chr22:46905142..46905941hg19UCSC Ensembl
Innerchr22:46905202..46905872hg19UCSC Ensembl
Outerchr22:46905052..46905982hg19UCSC Ensembl
chr22:45283806..45284605hg18UCSC Ensembl
Innerchr22:45283866..45284536hg18UCSC Ensembl
Outerchr22:45283716..45284646hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38800
hg19800
hg18800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3424033
Supporting Variants
SamplesNA12878
Known GenesCELSR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8699659
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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