A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390897



Internal ID15237864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:117739932..117739950hg38UCSC Ensembl
Innerchr9:117739934..117739948hg38UCSC Ensembl
Outerchr9:117739930..117739952hg38UCSC Ensembl
chr9:120502210..120502228hg19UCSC Ensembl
Innerchr9:120502212..120502226hg19UCSC Ensembl
Outerchr9:120502208..120502230hg19UCSC Ensembl
chr9:119542031..119542049hg18UCSC Ensembl
Innerchr9:119542033..119542047hg18UCSC Ensembl
Outerchr9:119542029..119542051hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864972
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390897
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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