A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691333



Internal ID15028818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78605864..78607062hg38UCSC Ensembl
Innerchr18:78606062..78606864hg38UCSC Ensembl
Outerchr18:78604864..78608062hg38UCSC Ensembl
chr18:76365864..76367062hg19UCSC Ensembl
Innerchr18:76366062..76366864hg19UCSC Ensembl
Outerchr18:76364864..76368062hg19UCSC Ensembl
chr18:74466852..74468050hg18UCSC Ensembl
Innerchr18:74467852..74467050hg18UCSC Ensembl
Outerchr18:74465852..74469050hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377950
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691333
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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