A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15055860



Internal ID6435379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73484101..73486709hg38UCSC Ensembl
Innerchr14:73484101..73486709hg38UCSC Ensembl
Outerchr14:73484006..73486816hg38UCSC Ensembl
chr14:73950806..73953414hg19UCSC Ensembl
Innerchr14:73950806..73953414hg19UCSC Ensembl
Outerchr14:73950711..73953521hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634908
Supporting Variants
SamplesNA20507
Known GenesHEATR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15055860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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