A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14123810



Internal ID856644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47884472..47889544hg38UCSC Ensembl
chr11:47906024..47911096hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385073
hg195073
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626214
Supporting Variants
SamplesHG00448
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14123810
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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