A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436707



Internal ID14936974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77750125..77750140hg38UCSC Ensembl
Innerchr9:77750119..77750146hg38UCSC Ensembl
Outerchr9:77750104..77750161hg38UCSC Ensembl
chr9:80365041..80365056hg19UCSC Ensembl
Innerchr9:80365035..80365062hg19UCSC Ensembl
Outerchr9:80365020..80365077hg19UCSC Ensembl
chr9:79554861..79554876hg18UCSC Ensembl
Innerchr9:79554882..79554855hg18UCSC Ensembl
Outerchr9:79554840..79554897hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8945187, essv8945183, essv8945186, essv8945194, essv8945189, essv8945188, essv8945195, essv8945193, essv8945192, essv8945185, essv8945184, essv8945190
SamplesNA18520, NA18523, NA19114, NA19093, NA18489, NA19108, NA19190, NA19102, NA18510, NA19116, NA19099, NA18519
Known GenesGNAQ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436707
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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