A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618331



Internal ID2405983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122710359..122712931hg38UCSC Ensembl
Innerchr9:122710385..122712906hg38UCSC Ensembl
Outerchr9:122710334..122712957hg38UCSC Ensembl
chr9:125472638..125475210hg19UCSC Ensembl
Innerchr9:125472664..125475185hg19UCSC Ensembl
Outerchr9:125472613..125475236hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621683
Supporting Variants
SamplesHG02133
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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