A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15089515



Internal ID4723093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:85115653..85246243hg38UCSC Ensembl
chr14:85581997..85712587hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38130591
hg19130591
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635183
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15089515
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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