A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14972050



Internal ID557337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38454749..38516251hg38UCSC Ensembl
Innerchr14:38455249..38515751hg38UCSC Ensembl
Outerchr14:38453749..38517251hg38UCSC Ensembl
chr14:38923953..38985455hg19UCSC Ensembl
Innerchr14:38924453..38984955hg19UCSC Ensembl
Outerchr14:38922953..38986455hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3861503
hg1961503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634115
Supporting Variants
SamplesHG00243
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14972050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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