A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16099146



Internal ID6100962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54754913..54769211hg38UCSC Ensembl
chr19:55266365..55280663hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814299
hg1914299
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644817
Supporting Variants
SamplesHG02485
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16099146
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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