A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9678369



Internal ID14911064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8205972..8205991hg38UCSC Ensembl
Innerchr20:8205968..8205995hg38UCSC Ensembl
Outerchr20:8205949..8206014hg38UCSC Ensembl
chr20:8186619..8186638hg19UCSC Ensembl
Innerchr20:8186615..8186642hg19UCSC Ensembl
Outerchr20:8186596..8186661hg19UCSC Ensembl
chr20:8134619..8134638hg18UCSC Ensembl
Innerchr20:8134642..8134615hg18UCSC Ensembl
Outerchr20:8134596..8134661hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352442
Supporting Variants
SamplesNA19141
Known GenesPLCB1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9678369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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