A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14925588



Internal ID1383159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20726002..20730218hg38UCSC Ensembl
chr14:21194161..21198377hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384217
hg194217
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633690
Supporting Variants
SamplesHG01251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14925588
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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