A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071059



Internal ID2722454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47747204..47907847hg38UCSC Ensembl
chr19:48250461..48411104hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38160644
hg19160644
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644559
Supporting Variants
SamplesHG02397
Known GenesCRX, GLTSCR2, SEPW1, SNAR-A12, SNAR-A13, SNORD23, SULT2A1, TPRX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071059
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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