A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093233



Internal ID840228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89734427..89737451hg38UCSC Ensembl
Innerchr14:89734427..89737451hg38UCSC Ensembl
Outerchr14:89734075..89737790hg38UCSC Ensembl
chr14:90200771..90203795hg19UCSC Ensembl
Innerchr14:90200771..90203795hg19UCSC Ensembl
Outerchr14:90200419..90204134hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg383025
hg193025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635301
Supporting Variants
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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