A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16046271



Internal ID1874648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35661806..35669249hg38UCSC Ensembl
chr19:36152708..36160151hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg387444
hg197444
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644241
Supporting Variants
SamplesHG01770
Known GenesUPK1A, UPK1A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16046271
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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