A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677438



Internal ID13730723
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 StatusS
Merged Variantsesv3423724
Supporting Variants
SamplesNA12892
Known GenesALDH1A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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