A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340007



Internal ID15186994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70579159..70579226hg38UCSC Ensembl
Innerchr9:70579166..70579219hg38UCSC Ensembl
Outerchr9:70579099..70579286hg38UCSC Ensembl
chr9:73194075..73194142hg19UCSC Ensembl
Innerchr9:73194082..73194135hg19UCSC Ensembl
Outerchr9:73194015..73194202hg19UCSC Ensembl
chr9:72383895..72383962hg18UCSC Ensembl
Innerchr9:72383955..72383902hg18UCSC Ensembl
Outerchr9:72383835..72384022hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8944732, essv8944735, essv8944734, essv8944733, essv8944731
SamplesNA18502, NA18508, NA11993, NA11894, NA18858
Known GenesTRPM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340007
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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