A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14003251



Internal ID4612983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5114340..5159347hg38UCSC Ensembl
Innerchr11:5114340..5159347hg38UCSC Ensembl
Outerchr11:5113840..5159847hg38UCSC Ensembl
chr11:5135570..5180577hg19UCSC Ensembl
Innerchr11:5135570..5180577hg19UCSC Ensembl
Outerchr11:5135070..5181077hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3845008
hg1945008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625206
Supporting Variants
SamplesHG04146
Known GenesOR52A1, OR52A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14003251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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