A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563794



Internal ID7034894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:18709672..19617847hg38UCSC Ensembl
Outerchr14:19486149..20086137hg19UCSC Ensembl
Outerchr14:18556149..19155846hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38908176
hg19599989
hg18599698
Variant TypeOTHER inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005804
Supporting Variants
SamplesHuRef
Known GenesBMS1P17, BMS1P18, POTEG, POTEM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563794
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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