A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697319



Internal ID13707610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65738815..65762413hg38UCSC Ensembl
Innerchr9:65739815..65761413hg38UCSC Ensembl
Outerchr9:65737815..65763413hg38UCSC Ensembl
chr9:70403632..70427230hg19UCSC Ensembl
Innerchr9:70404632..70426230hg19UCSC Ensembl
Outerchr9:70402632..70428230hg19UCSC Ensembl
chr9:69643452..69667050hg18UCSC Ensembl
Innerchr9:69644452..69666050hg18UCSC Ensembl
Outerchr9:69642452..69668050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3823599
hg1923599
hg1823599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3446526
Supporting Variants
SamplesNA12891
Known GenesFOXD4L2, FOXD4L4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697319
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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