A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14928158



Internal ID5736038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21355404..21356651hg38UCSC Ensembl
Innerchr14:21355422..21356634hg38UCSC Ensembl
Outerchr14:21355387..21356669hg38UCSC Ensembl
chr14:21823563..21824810hg19UCSC Ensembl
Innerchr14:21823581..21824793hg19UCSC Ensembl
Outerchr14:21823546..21824828hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633712
Supporting Variants
SamplesNA19113
Known GenesSUPT16H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14928158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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