A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843521



Internal ID15084275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:22471136..22472338hg38UCSC Ensembl
Outerchr20:22471136..22472338hg38UCSC Ensembl
Innerchr20:22451774..22452976hg19UCSC Ensembl
Outerchr20:22451774..22452976hg19UCSC Ensembl
Innerchr20:22400976..22399774hg18UCSC Ensembl
Outerchr20:22399774..22400976hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381545
hg191545
hg181545
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310521
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843521
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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