A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15077009



Internal ID5078825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80850393..80857058hg38UCSC Ensembl
Innerchr14:80850411..80857040hg38UCSC Ensembl
Outerchr14:80850375..80857076hg38UCSC Ensembl
chr14:81316737..81323402hg19UCSC Ensembl
Innerchr14:81316755..81323384hg19UCSC Ensembl
Outerchr14:81316719..81323420hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386666
hg196666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635078
Supporting Variants
SamplesNA20885
Known GenesCEP128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15077009
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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