A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14970164



Internal ID498152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37771374..37779543hg38UCSC Ensembl
Innerchr14:37771374..37779543hg38UCSC Ensembl
Outerchr14:37770874..37780043hg38UCSC Ensembl
chr14:38240579..38248748hg19UCSC Ensembl
Innerchr14:38240579..38248748hg19UCSC Ensembl
Outerchr14:38240079..38249248hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg388170
hg198170
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634099
Supporting Variants
SamplesHG00177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14970164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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