A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835395



Internal ID1620578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30585075..30590277hg38UCSC Ensembl
Innerchr18:30585089..30590264hg38UCSC Ensembl
Outerchr18:30585062..30590291hg38UCSC Ensembl
chr18:28165041..28170243hg19UCSC Ensembl
Innerchr18:28165055..28170230hg19UCSC Ensembl
Outerchr18:28165028..28170257hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385203
hg195203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642109
Supporting Variants
SamplesHG01500
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835395
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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