A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15075886



Internal ID2317565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79604451..79605769hg38UCSC Ensembl
Innerchr14:79604451..79605769hg38UCSC Ensembl
Outerchr14:79604179..79606079hg38UCSC Ensembl
chr14:80070794..80072112hg19UCSC Ensembl
Innerchr14:80070794..80072112hg19UCSC Ensembl
Outerchr14:80070522..80072422hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635049
Supporting Variants
SamplesHG02064
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15075886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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