A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14197546



Internal ID832053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67478683..67480883hg38UCSC Ensembl
Innerchr11:67478733..67480833hg38UCSC Ensembl
Outerchr11:67478633..67480933hg38UCSC Ensembl
chr11:67246154..67248354hg19UCSC Ensembl
Innerchr11:67246204..67248304hg19UCSC Ensembl
Outerchr11:67246104..67248404hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626712
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14197546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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