A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14969951



Internal ID3169413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37560921..37561784hg38UCSC Ensembl
Innerchr14:37560940..37561765hg38UCSC Ensembl
Outerchr14:37560902..37561803hg38UCSC Ensembl
chr14:38030126..38030989hg19UCSC Ensembl
Innerchr14:38030145..38030970hg19UCSC Ensembl
Outerchr14:38030107..38031008hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634089
Supporting Variants
SamplesHG02787
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14969951
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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