A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812689



Internal ID5942109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13778411..13782476hg38UCSC Ensembl
Innerchr18:13778416..13782471hg38UCSC Ensembl
Outerchr18:13778406..13782481hg38UCSC Ensembl
chr18:13778410..13782475hg19UCSC Ensembl
Innerchr18:13778415..13782470hg19UCSC Ensembl
Outerchr18:13778405..13782480hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384066
hg194066
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641859
Supporting Variants
SamplesNA19351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812689
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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