A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15051761



Internal ID4637848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68756507..68765078hg38UCSC Ensembl
Innerchr14:68756507..68765078hg38UCSC Ensembl
Outerchr14:68756407..68765183hg38UCSC Ensembl
chr14:69223224..69231795hg19UCSC Ensembl
Innerchr14:69223224..69231795hg19UCSC Ensembl
Outerchr14:69223124..69231900hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg388572
hg198572
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634831
Supporting Variants
SamplesHG04171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15051761
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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