A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14295408



Internal ID1286016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121347672..121358145hg38UCSC Ensembl
Innerchr11:121347672..121358145hg38UCSC Ensembl
Outerchr11:121347458..121358348hg38UCSC Ensembl
chr11:121218381..121228854hg19UCSC Ensembl
Innerchr11:121218381..121228854hg19UCSC Ensembl
Outerchr11:121218167..121229057hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3810474
hg1910474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627920
Supporting Variants
SamplesHG01131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14295408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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