A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054821



Internal ID5084560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40481653..40485104hg38UCSC Ensembl
Innerchr19:40481653..40485104hg38UCSC Ensembl
Outerchr19:40481436..40485380hg38UCSC Ensembl
chr19:40987560..40991011hg19UCSC Ensembl
Innerchr19:40987560..40991011hg19UCSC Ensembl
Outerchr19:40987343..40991287hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644353
Supporting Variants
SamplesNA18546
Known GenesSPTBN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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