A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15927373



Internal ID5929189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69412395..69428741hg38UCSC Ensembl
Innerchr18:69412395..69428741hg38UCSC Ensembl
Outerchr18:69412123..69428970hg38UCSC Ensembl
chr18:67079631..67095977hg19UCSC Ensembl
Innerchr18:67079631..67095977hg19UCSC Ensembl
Outerchr18:67079359..67096206hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3816347
hg1916347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642965
Supporting Variants
SamplesHG02775
Known GenesDOK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15927373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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