A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13532964



Internal ID1925168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78547199..78555379hg38UCSC Ensembl
Innerchr9:78547201..78555378hg38UCSC Ensembl
Outerchr9:78547198..78555381hg38UCSC Ensembl
chr9:81162115..81170295hg19UCSC Ensembl
Innerchr9:81162117..81170294hg19UCSC Ensembl
Outerchr9:81162114..81170297hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg388181
hg198181
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620798
Supporting Variants
SamplesHG01798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13532964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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