A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691106



Internal ID15061167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12437853..12440151hg38UCSC Ensembl
Innerchr18:12438853..12439151hg38UCSC Ensembl
Outerchr18:12436853..12441151hg38UCSC Ensembl
chr18:12437852..12440150hg19UCSC Ensembl
Innerchr18:12438852..12439150hg19UCSC Ensembl
Outerchr18:12436852..12441150hg19UCSC Ensembl
chr18:12427852..12430150hg18UCSC Ensembl
Innerchr18:12428852..12429150hg18UCSC Ensembl
Outerchr18:12426852..12431150hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380733
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691106
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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