A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5607760



Internal ID8731429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38483094..38576334hg38UCSC Ensembl
Outerchr14:38483057..38576384hg38UCSC Ensembl
Innerchr14:38952298..39045538hg19UCSC Ensembl
Outerchr14:38952261..39045588hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3893328
hg1993328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660884
Supporting Variants
SamplesHG00117
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5607760
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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