A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998773



Internal ID6734705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40021203..40042655hg38UCSC Ensembl
Outerchr21:41393130..41414582hg19UCSC Ensembl
Outerchr21:40315000..40336452hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3821453
hg1921453
hg1821453
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564195
SamplesHuRef
Known GenesDSCAM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998773
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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