A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072992



Internal ID6074808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48700284..48704580hg38UCSC Ensembl
Innerchr19:48700284..48704580hg38UCSC Ensembl
Outerchr19:48700127..48704746hg38UCSC Ensembl
chr19:49203541..49207837hg19UCSC Ensembl
Innerchr19:49203541..49207837hg19UCSC Ensembl
Outerchr19:49203384..49208003hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384297
hg194297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644598
Supporting Variants
SamplesHG03015
Known GenesFUT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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