A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15017276



Internal ID4287630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54151859..54163787hg38UCSC Ensembl
Innerchr14:54151875..54163771hg38UCSC Ensembl
Outerchr14:54151843..54163803hg38UCSC Ensembl
chr14:54618577..54630505hg19UCSC Ensembl
Innerchr14:54618593..54630489hg19UCSC Ensembl
Outerchr14:54618561..54630521hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3811929
hg1911929
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634552
Supporting Variants
SamplesHG03850
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15017276
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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