A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15019367



Internal ID4856914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55284446..55285311hg38UCSC Ensembl
Innerchr14:55284449..55285309hg38UCSC Ensembl
Outerchr14:55284444..55285314hg38UCSC Ensembl
chr14:55751164..55752029hg19UCSC Ensembl
Innerchr14:55751167..55752027hg19UCSC Ensembl
Outerchr14:55751162..55752032hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634576
Supporting Variants
SamplesNA12275
Known GenesFBXO34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15019367
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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