A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378568



Internal ID15225541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123577672..123577690hg38UCSC Ensembl
Innerchr9:123577667..123577693hg38UCSC Ensembl
Outerchr9:123577649..123577711hg38UCSC Ensembl
chr9:126339951..126339969hg19UCSC Ensembl
Innerchr9:126339946..126339972hg19UCSC Ensembl
Outerchr9:126339928..126339990hg19UCSC Ensembl
chr9:125379772..125379790hg18UCSC Ensembl
Innerchr9:125379793..125379767hg18UCSC Ensembl
Outerchr9:125379749..125379811hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677324
SamplesNA19239
Known GenesDENND1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378568
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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