A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287901



Internal ID1816599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112292803..112297916hg38UCSC Ensembl
Innerchr11:112292953..112297766hg38UCSC Ensembl
Outerchr11:112292653..112298066hg38UCSC Ensembl
chr11:112163526..112168639hg19UCSC Ensembl
Innerchr11:112163676..112168489hg19UCSC Ensembl
Outerchr11:112163376..112168789hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg385114
hg195114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627754
Supporting Variants
SamplesHG01686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287901
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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