A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107548



Internal ID6109364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58509854..58512130hg38UCSC Ensembl
Innerchr19:58509872..58512113hg38UCSC Ensembl
Outerchr19:58509837..58512148hg38UCSC Ensembl
chr19:59021221..59023497hg19UCSC Ensembl
Innerchr19:59021239..59023480hg19UCSC Ensembl
Outerchr19:59021204..59023515hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644938
Supporting Variants
SamplesNA19788
Known GenesSLC27A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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