A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398370



Internal ID15245333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58407040..58408838hg38UCSC Ensembl
Innerchr18:58407838..58408040hg38UCSC Ensembl
Outerchr18:58406040..58409838hg38UCSC Ensembl
chr18:56074272..56076070hg19UCSC Ensembl
Innerchr18:56075070..56075272hg19UCSC Ensembl
Outerchr18:56073272..56077070hg19UCSC Ensembl
chr18:54225252..54227050hg18UCSC Ensembl
Innerchr18:54226252..54226050hg18UCSC Ensembl
Outerchr18:54224252..54228050hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691244
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398370
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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