A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14218747



Internal ID3413112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82179432..82182678hg38UCSC Ensembl
Innerchr11:82179463..82182648hg38UCSC Ensembl
Outerchr11:82179402..82182709hg38UCSC Ensembl
chr11:81890474..81893720hg19UCSC Ensembl
Innerchr11:81890505..81893690hg19UCSC Ensembl
Outerchr11:81890444..81893751hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg383247
hg193247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626988
Supporting Variants
SamplesHG03055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14218747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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