A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107547



Internal ID6109363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58508889..58510533hg38UCSC Ensembl
Innerchr19:58508889..58510533hg38UCSC Ensembl
Outerchr19:58508716..58510690hg38UCSC Ensembl
chr19:59020256..59021900hg19UCSC Ensembl
Innerchr19:59020256..59021900hg19UCSC Ensembl
Outerchr19:59020083..59022057hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381645
hg191645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644937
Supporting Variants
SamplesHG00131
Known GenesSLC27A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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