A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14928161



Internal ID2873760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21374453..21375958hg38UCSC Ensembl
Innerchr14:21374470..21375941hg38UCSC Ensembl
Outerchr14:21374436..21375975hg38UCSC Ensembl
chr14:21842612..21844117hg19UCSC Ensembl
Innerchr14:21842629..21844100hg19UCSC Ensembl
Outerchr14:21842595..21844134hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381506
hg191506
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633713
Supporting Variants
SamplesHG02549
Known GenesSUPT16H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14928161
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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