A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696747



Internal ID13731656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65259074..65280788hg38UCSC Ensembl
Innerchr9:65260078..65279788hg38UCSC Ensembl
Outerchr9:65258187..65281787hg38UCSC Ensembl
chr9:42721656..42743354hg19UCSC Ensembl
Innerchr9:42722656..42742354hg19UCSC Ensembl
Outerchr9:42720656..42744354hg19UCSC Ensembl
chr9:42711652..42733350hg18UCSC Ensembl
Innerchr9:42712652..42732350hg18UCSC Ensembl
Outerchr9:42710652..42734350hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3821715
hg1921699
hg1821699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3434043
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696747
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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