A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8972997



Internal ID14883427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25709567..25709590hg38UCSC Ensembl
Innerchr18:25709569..25709588hg38UCSC Ensembl
Outerchr18:25709546..25709611hg38UCSC Ensembl
chr18:23289531..23289554hg19UCSC Ensembl
Innerchr18:23289533..23289552hg19UCSC Ensembl
Outerchr18:23289510..23289575hg19UCSC Ensembl
chr18:21543529..21543552hg18UCSC Ensembl
Innerchr18:21543550..21543531hg18UCSC Ensembl
Outerchr18:21543508..21543573hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3420744
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8972997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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