A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8944906



Internal ID14451973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72928062..72928075hg38UCSC Ensembl
Innerchr9:72928052..72928083hg38UCSC Ensembl
Outerchr9:72928039..72928096hg38UCSC Ensembl
chr9:75542978..75542991hg19UCSC Ensembl
Innerchr9:75542968..75542999hg19UCSC Ensembl
Outerchr9:75542955..75543012hg19UCSC Ensembl
chr9:74732798..74732811hg18UCSC Ensembl
Innerchr9:74732819..74732788hg18UCSC Ensembl
Outerchr9:74732775..74732832hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370794
Supporting Variants
SamplesNA18940
Known GenesALDH1A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8944906
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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