A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14003809



Internal ID4005625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5541786..5609499hg38UCSC Ensembl
Innerchr11:5541786..5609499hg38UCSC Ensembl
Outerchr11:5541286..5609999hg38UCSC Ensembl
chr11:5563016..5630729hg19UCSC Ensembl
Innerchr11:5563016..5630729hg19UCSC Ensembl
Outerchr11:5562516..5631229hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3867714
hg1967714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625236
Supporting Variants
SamplesHG01851
Known GenesOR52B6, OR52H1, TRIM6, TRIM6-TRIM34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14003809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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