A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15070087



Internal ID5527273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77987879..78002985hg38UCSC Ensembl
Innerchr14:77988029..78002835hg38UCSC Ensembl
Outerchr14:77987729..78003135hg38UCSC Ensembl
chr14:78454222..78469328hg19UCSC Ensembl
Innerchr14:78454372..78469178hg19UCSC Ensembl
Outerchr14:78454072..78469478hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3815107
hg1915107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635023
Supporting Variants
SamplesNA18995
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15070087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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