A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14946891



Internal ID4547142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26635453..26673527hg38UCSC Ensembl
Innerchr14:26635453..26673527hg38UCSC Ensembl
Outerchr14:26634953..26674027hg38UCSC Ensembl
chr14:27104659..27142733hg19UCSC Ensembl
Innerchr14:27104659..27142733hg19UCSC Ensembl
Outerchr14:27104159..27143233hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3838075
hg1938075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633854
Supporting Variants
SamplesHG04042
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14946891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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