A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15019119



Internal ID5020935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54853090..54859538hg38UCSC Ensembl
Innerchr14:54853090..54859538hg38UCSC Ensembl
Outerchr14:54852961..54859678hg38UCSC Ensembl
chr14:55319808..55326256hg19UCSC Ensembl
Innerchr14:55319808..55326256hg19UCSC Ensembl
Outerchr14:55319679..55326396hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg386449
hg196449
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634565
Supporting Variants
SamplesHG00565
Known GenesGCH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15019119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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