A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14043307



Internal ID658629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18572540..18577605hg38UCSC Ensembl
Innerchr11:18572690..18577455hg38UCSC Ensembl
Outerchr11:18572390..18577755hg38UCSC Ensembl
chr11:18594087..18599152hg19UCSC Ensembl
Innerchr11:18594237..18599002hg19UCSC Ensembl
Outerchr11:18593937..18599302hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg385066
hg195066
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625503
Supporting Variants
SamplesHG00306
Known GenesUEVLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14043307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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