A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15059383



Internal ID3197465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73544379..73557303hg38UCSC Ensembl
chr14:74011083..74024007hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3812925
hg1912925
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634911
Supporting Variants
SamplesHG02808
Known GenesHEATR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15059383
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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