A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634117



Internal ID7020921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38476807..38483632hg38UCSC Ensembl
Innerchr14:38476819..38483621hg38UCSC Ensembl
Outerchr14:38476796..38483644hg38UCSC Ensembl
chr14:38946011..38952836hg19UCSC Ensembl
Innerchr14:38946023..38952825hg19UCSC Ensembl
Outerchr14:38946000..38952848hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg386826
hg196826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14972076, essv14972075
SamplesHG00243, NA19009
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634117
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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