A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998989



Internal ID6734920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21583121..22701180hg38UCSC Ensembl
Outerchr16:21594442..22712501hg19UCSC Ensembl
Outerchr16:21501943..22620002hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381118060
hg191118060
hg181118060
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565267
SamplesHuRef
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998989
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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