A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15815035



Internal ID5920547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14412454..14426967hg38UCSC Ensembl
Innerchr18:14412454..14426967hg38UCSC Ensembl
Outerchr18:14411954..14427467hg38UCSC Ensembl
chr18:14412453..14426966hg19UCSC Ensembl
Innerchr18:14412453..14426966hg19UCSC Ensembl
Outerchr18:14411953..14427466hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3814514
hg1914514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641895
Supporting Variants
SamplesNA19331
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15815035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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