A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990246



Internal ID5992062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9815633..9817829hg38UCSC Ensembl
Innerchr19:9815633..9817829hg38UCSC Ensembl
Outerchr19:9815480..9817942hg38UCSC Ensembl
chr19:9926309..9928505hg19UCSC Ensembl
Innerchr19:9926309..9928505hg19UCSC Ensembl
Outerchr19:9926156..9928618hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382197
hg192197
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643642
Supporting Variants
SamplesNA19025
Known GenesFBXL12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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