A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842027



Internal ID1836909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35678287..35679579hg38UCSC Ensembl
Innerchr18:35678306..35679560hg38UCSC Ensembl
Outerchr18:35678268..35679598hg38UCSC Ensembl
chr18:33258251..33259543hg19UCSC Ensembl
Innerchr18:33258270..33259524hg19UCSC Ensembl
Outerchr18:33258232..33259562hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642205
Supporting Variants
SamplesHG01705
Known GenesGALNT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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