A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997017



Internal ID6732959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99471134..99488722hg38UCSC Ensembl
Outerchr14:99937471..99955059hg19UCSC Ensembl
Outerchr14:99007224..99024812hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3817589
hg1917589
hg1817589
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563556
SamplesHuRef
Known GenesCCNK, SETD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997017
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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