A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696633



Internal ID15058655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62140347..62141745hg38UCSC Ensembl
Innerchr9:62140745..62141347hg38UCSC Ensembl
Outerchr9:62139341..62142745hg38UCSC Ensembl
chr9:40185452..40186850hg19UCSC Ensembl
Innerchr9:40185850..40186452hg19UCSC Ensembl
Outerchr9:40184452..40187850hg19UCSC Ensembl
chr9:40175452..40176850hg18UCSC Ensembl
Innerchr9:40176452..40175850hg18UCSC Ensembl
Outerchr9:40174452..40177850hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3369330
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696633
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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