A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13989823



Internal ID3991639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:543810..548664hg38UCSC Ensembl
Innerchr11:543810..548664hg38UCSC Ensembl
Outerchr11:543772..548704hg38UCSC Ensembl
chr11:543810..548664hg19UCSC Ensembl
Innerchr11:543810..548664hg19UCSC Ensembl
Outerchr11:543772..548704hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384855
hg194855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625069
Supporting Variants
SamplesHG02787
Known GenesLRRC56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13989823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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