A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14975851



Internal ID2499265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39482280..39518473hg38UCSC Ensembl
Innerchr14:39482280..39518473hg38UCSC Ensembl
Outerchr14:39481780..39518973hg38UCSC Ensembl
chr14:39951484..39987677hg19UCSC Ensembl
Innerchr14:39951484..39987677hg19UCSC Ensembl
Outerchr14:39950984..39988177hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3836194
hg1936194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634146
Supporting Variants
SamplesHG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14975851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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