A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14006603



Internal ID3802167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5763248..5787986hg38UCSC Ensembl
Innerchr11:5763358..5787797hg38UCSC Ensembl
Outerchr11:5762932..5788302hg38UCSC Ensembl
chr11:5784478..5809216hg19UCSC Ensembl
Innerchr11:5784588..5809027hg19UCSC Ensembl
Outerchr11:5784162..5809532hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824739
hg1924739
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625250
Supporting Variants
SamplesHG03446
Known GenesOR52N1, OR52N5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14006603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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