A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14003808



Internal ID2000478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5528020..5551557hg38UCSC Ensembl
Innerchr11:5528020..5551557hg38UCSC Ensembl
Outerchr11:5527520..5552057hg38UCSC Ensembl
chr11:5549250..5572787hg19UCSC Ensembl
Innerchr11:5549250..5572787hg19UCSC Ensembl
Outerchr11:5548750..5573287hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823538
hg1923538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625235
Supporting Variants
SamplesHG01851
Known GenesOR52H1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14003808
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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