A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15999921



Internal ID6001737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15051815..15101244hg38UCSC Ensembl
chr19:15162626..15212055hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3849430
hg1949430
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643761
Supporting Variants
SamplesHG01046
Known GenesCASP14, OR1I1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15999921
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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