A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15067714



Internal ID2697603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76531609..76533043hg38UCSC Ensembl
Innerchr14:76531609..76533043hg38UCSC Ensembl
Outerchr14:76531524..76533076hg38UCSC Ensembl
chr14:76997952..76999386hg19UCSC Ensembl
Innerchr14:76997952..76999386hg19UCSC Ensembl
Outerchr14:76997867..76999419hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634985
Supporting Variants
SamplesHG02385
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15067714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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