A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292661



Internal ID838775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117173819..117176293hg38UCSC Ensembl
Innerchr11:117173819..117176293hg38UCSC Ensembl
Outerchr11:117173517..117176589hg38UCSC Ensembl
chr11:117044535..117047009hg19UCSC Ensembl
Innerchr11:117044535..117047009hg19UCSC Ensembl
Outerchr11:117044233..117047305hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382475
hg192475
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627846
Supporting Variants
SamplesHG00428
Known GenesPAFAH1B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292661
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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