A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14946832



Internal ID4948648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26411340..26535541hg38UCSC Ensembl
chr14:26880546..27004747hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38124202
hg19124202
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633850
Supporting Variants
SamplesNA19475
Known GenesNOVA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14946832
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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