A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992854



Internal ID6728815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41974826..41990990hg38UCSC Ensembl
Outerchr19:42478978..42495142hg19UCSC Ensembl
Outerchr19:47170818..47186982hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816165
hg1916165
hg1816165
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564076
SamplesHuRef
Known GenesATP1A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992854
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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