A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14935052



Internal ID4021177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22859799..22868227hg38UCSC Ensembl
Innerchr14:22860299..22867727hg38UCSC Ensembl
Outerchr14:22858799..22869227hg38UCSC Ensembl
chr14:23329008..23337436hg19UCSC Ensembl
Innerchr14:23329508..23336936hg19UCSC Ensembl
Outerchr14:23328008..23338436hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388429
hg198429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633768
Supporting Variants
SamplesHG03673
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14935052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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