A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13639169



Internal ID3640985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133070654..133087104hg38UCSC Ensembl
Innerchr9:133071154..133086604hg38UCSC Ensembl
Outerchr9:133069654..133088104hg38UCSC Ensembl
chr9:135946041..135962491hg19UCSC Ensembl
Innerchr9:135946541..135961991hg19UCSC Ensembl
Outerchr9:135945041..135963491hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3816451
hg1916451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621933
Supporting Variants
SamplesHG01804
Known GenesCEL, CELP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13639169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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