A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423724



Internal ID15270681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72928059..72928071hg38UCSC Ensembl
Innerchr9:72928050..72928077hg38UCSC Ensembl
Outerchr9:72928038..72928092hg38UCSC Ensembl
chr9:75542975..75542987hg19UCSC Ensembl
Innerchr9:75542966..75542993hg19UCSC Ensembl
Outerchr9:75542954..75543008hg19UCSC Ensembl
chr9:74732795..74732807hg18UCSC Ensembl
Innerchr9:74732813..74732786hg18UCSC Ensembl
Outerchr9:74732774..74732828hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677439, essv8677440, essv8677438
SamplesNA19239, NA12878, NA12892
Known GenesALDH1A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423724
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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