A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14120120



Internal ID1366248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47384107..47384920hg38UCSC Ensembl
Innerchr11:47384107..47384920hg38UCSC Ensembl
Outerchr11:47383821..47385224hg38UCSC Ensembl
chr11:47405658..47406471hg19UCSC Ensembl
Innerchr11:47405658..47406471hg19UCSC Ensembl
Outerchr11:47405372..47406775hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626202
Supporting Variants
SamplesHG01205
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14120120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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