A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14215013



Internal ID4520128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78093955..78096340hg38UCSC Ensembl
Innerchr11:78093978..78096318hg38UCSC Ensembl
Outerchr11:78093933..78096363hg38UCSC Ensembl
chr11:77805001..77807386hg19UCSC Ensembl
Innerchr11:77805024..77807364hg19UCSC Ensembl
Outerchr11:77804979..77807409hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626893
Supporting Variants
SamplesHG04019
Known GenesRNU6-83P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14215013
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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