A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740890



Internal ID15084698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26975484..26975484hg38UCSC Ensembl
Innerchr18:26975483..26975485hg38UCSC Ensembl
Outerchr18:26975434..26975534hg38UCSC Ensembl
chr18:24555448..24555448hg19UCSC Ensembl
Innerchr18:24555447..24555449hg19UCSC Ensembl
Outerchr18:24555398..24555498hg19UCSC Ensembl
chr18:22809446..22809446hg18UCSC Ensembl
Innerchr18:22809447..22809445hg18UCSC Ensembl
Outerchr18:22809396..22809496hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3435383
Supporting Variants
SamplesNA19240
Known GenesCHST9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740890
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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