A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812722



Internal ID1634345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14049368..14058521hg38UCSC Ensembl
Innerchr18:14049368..14058521hg38UCSC Ensembl
Outerchr18:14048868..14059021hg38UCSC Ensembl
chr18:14049367..14058520hg19UCSC Ensembl
Innerchr18:14049367..14058520hg19UCSC Ensembl
Outerchr18:14048867..14059020hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg389154
hg199154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641868
Supporting Variants
SamplesHG01509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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