A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14217486



Internal ID5249313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:81612482..81723119hg38UCSC Ensembl
Innerchr11:81612508..81723094hg38UCSC Ensembl
Outerchr11:81612457..81723145hg38UCSC Ensembl
chr11:81323524..81434161hg19UCSC Ensembl
Innerchr11:81323550..81434136hg19UCSC Ensembl
Outerchr11:81323499..81434187hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38110638
hg19110638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626963
Supporting Variants
SamplesNA18633
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14217486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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