A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635007



Internal ID6675121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77512802..77515663hg38UCSC Ensembl
Innerchr14:77512832..77515634hg38UCSC Ensembl
Outerchr14:77512773..77515693hg38UCSC Ensembl
chr14:77979145..77982006hg19UCSC Ensembl
Innerchr14:77979175..77981977hg19UCSC Ensembl
Outerchr14:77979116..77982036hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382862
hg192862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15069417
SamplesHG03294
Known GenesSPTLC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635007
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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