A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812842



Internal ID4632298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14161520..14354032hg38UCSC Ensembl
Innerchr18:14161534..14354019hg38UCSC Ensembl
Outerchr18:14161507..14354046hg38UCSC Ensembl
chr18:14161519..14354031hg19UCSC Ensembl
Innerchr18:14161533..14354018hg19UCSC Ensembl
Outerchr18:14161506..14354045hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38192513
hg19192513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641874
Supporting Variants
SamplesHG04162
Known GenesANKRD20A5P, CYP4F35P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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