A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393341



Internal ID15240306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123577658..123577686hg38UCSC Ensembl
Innerchr9:123577670..123577672hg38UCSC Ensembl
Outerchr9:123577642..123577700hg38UCSC Ensembl
chr9:126339937..126339965hg19UCSC Ensembl
Innerchr9:126339949..126339951hg19UCSC Ensembl
Outerchr9:126339921..126339979hg19UCSC Ensembl
chr9:125379758..125379786hg18UCSC Ensembl
Innerchr9:125379772..125379770hg18UCSC Ensembl
Outerchr9:125379742..125379800hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8946206, essv8946208, essv8946210, essv8946209, essv8946207
SamplesNA18510, NA19210, NA19114, NA19099, NA18523
Known GenesDENND1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393341
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer