A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15074339



Internal ID5410577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79188480..79199391hg38UCSC Ensembl
Innerchr14:79188488..79199383hg38UCSC Ensembl
Outerchr14:79188472..79199399hg38UCSC Ensembl
chr14:79654823..79665734hg19UCSC Ensembl
Innerchr14:79654831..79665726hg19UCSC Ensembl
Outerchr14:79654815..79665742hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3810912
hg1910912
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635042
Supporting Variants
SamplesNA18947
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15074339
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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