A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621979



Internal ID7008844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135255387..135418489hg38UCSC Ensembl
Innerchr9:135255537..135418339hg38UCSC Ensembl
Outerchr9:135255237..135418639hg38UCSC Ensembl
chr9:138147233..138310335hg19UCSC Ensembl
Innerchr9:138147383..138310185hg19UCSC Ensembl
Outerchr9:138147083..138310485hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38163103
hg19163103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13648209, essv13648208, essv13648210, essv13648207
SamplesNA19720, HG00239, NA19818, NA12776
Known GenesC9orf62
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621979
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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