A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389342



Internal ID15236309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57038952..57038962hg38UCSC Ensembl
Innerchr18:57038944..57038970hg38UCSC Ensembl
Outerchr18:57038931..57038980hg38UCSC Ensembl
chr18:54706183..54706193hg19UCSC Ensembl
Innerchr18:54706175..54706201hg19UCSC Ensembl
Outerchr18:54706162..54706211hg19UCSC Ensembl
chr18:52857181..52857191hg18UCSC Ensembl
Innerchr18:52857199..52857173hg18UCSC Ensembl
Outerchr18:52857160..52857209hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673614, essv8673615, essv8673613, essv8673612
SamplesNA12891, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389342
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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