A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691285



Internal ID15028596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75864109..75865907hg38UCSC Ensembl
Innerchr18:75864907..75865109hg38UCSC Ensembl
Outerchr18:75863109..75866907hg38UCSC Ensembl
chr18:73576064..73577862hg19UCSC Ensembl
Innerchr18:73576862..73577064hg19UCSC Ensembl
Outerchr18:73575064..73578862hg19UCSC Ensembl
chr18:71705052..71706850hg18UCSC Ensembl
Innerchr18:71706052..71705850hg18UCSC Ensembl
Outerchr18:71704052..71707850hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449732
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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