A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15064593



Internal ID5708987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76227330..76227721hg38UCSC Ensembl
Innerchr14:76227346..76227706hg38UCSC Ensembl
Outerchr14:76227315..76227737hg38UCSC Ensembl
chr14:76693673..76694064hg19UCSC Ensembl
Innerchr14:76693689..76694049hg19UCSC Ensembl
Outerchr14:76693658..76694080hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634980
Supporting Variants
SamplesNA19092
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15064593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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