A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330179



Internal ID14830456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137778679..137781477hg38UCSC Ensembl
Innerchr9:137779679..137780477hg38UCSC Ensembl
Outerchr9:137777679..137782477hg38UCSC Ensembl
chr9:140673131..140675929hg19UCSC Ensembl
Innerchr9:140674131..140674929hg19UCSC Ensembl
Outerchr9:140672131..140676929hg19UCSC Ensembl
chr9:139792952..139795750hg18UCSC Ensembl
Innerchr9:139793952..139794750hg18UCSC Ensembl
Outerchr9:139791952..139796750hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696579
SamplesNA19240
Known GenesEHMT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330179
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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