A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15024828



Internal ID5226014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58013819..58019602hg38UCSC Ensembl
Innerchr14:58013862..58019559hg38UCSC Ensembl
Outerchr14:58013776..58019645hg38UCSC Ensembl
chr14:58480537..58486320hg19UCSC Ensembl
Innerchr14:58480580..58486277hg19UCSC Ensembl
Outerchr14:58480494..58486363hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385784
hg195784
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634618
Supporting Variants
SamplesNA18624
Known GenesC14orf37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15024828
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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