A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14704707



Internal ID4706523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41144449..41179962hg38UCSC Ensembl
chr13:41718585..41754098hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3835514
hg1935514
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631867
Supporting Variants
SamplesHG01405
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14704707
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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