A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15886278



Internal ID4981431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55640357..55652525hg38UCSC Ensembl
Innerchr18:55640363..55652519hg38UCSC Ensembl
Outerchr18:55640351..55652531hg38UCSC Ensembl
chr18:53307588..53319756hg19UCSC Ensembl
Innerchr18:53307594..53319750hg19UCSC Ensembl
Outerchr18:53307582..53319762hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3812169
hg1912169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642600
Supporting Variants
SamplesNA12890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15886278
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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