A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14040152



Internal ID1629879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17299682..17306699hg38UCSC Ensembl
Innerchr11:17299682..17306699hg38UCSC Ensembl
Outerchr11:17299271..17307134hg38UCSC Ensembl
chr11:17321229..17328246hg19UCSC Ensembl
Innerchr11:17321229..17328246hg19UCSC Ensembl
Outerchr11:17320818..17328681hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg387018
hg197018
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625474
Supporting Variants
SamplesHG01506
Known GenesNUCB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14040152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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