A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837979



Internal ID13374060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423637..31423638hg38UCSC Ensembl
Innerchr18:31423612..31423663hg38UCSC Ensembl
Outerchr18:31423611..31423664hg38UCSC Ensembl
chr18:29003600..29003601hg19UCSC Ensembl
Innerchr18:29003575..29003626hg19UCSC Ensembl
Outerchr18:29003574..29003627hg19UCSC Ensembl
chr18:27257598..27257599hg18UCSC Ensembl
Innerchr18:27257624..27257573hg18UCSC Ensembl
Outerchr18:27257572..27257625hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308534
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837979
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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