A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13612843



Internal ID880520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118986496..118989461hg38UCSC Ensembl
Innerchr9:118986496..118989461hg38UCSC Ensembl
Outerchr9:118986386..118989532hg38UCSC Ensembl
chr9:121748774..121751739hg19UCSC Ensembl
Innerchr9:121748774..121751739hg19UCSC Ensembl
Outerchr9:121748664..121751810hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg382966
hg192966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621631
Supporting Variants
SamplesHG00473
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13612843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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