A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8944732



Internal ID13791908
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 StatusS
Merged Variantsesv3340007
Supporting Variants
SamplesNA18502
Known GenesTRPM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8944732
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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