A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14989579



Internal ID1315731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:42494131..42617243hg38UCSC Ensembl
chr14:42963334..43086446hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38123113
hg19123113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634237
Supporting Variants
SamplesHG01162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14989579
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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