A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13622611



Internal ID2532797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127469764..127471615hg38UCSC Ensembl
Innerchr9:127469806..127471573hg38UCSC Ensembl
Outerchr9:127469722..127471657hg38UCSC Ensembl
chr9:130232043..130233894hg19UCSC Ensembl
Innerchr9:130232085..130233852hg19UCSC Ensembl
Outerchr9:130232001..130233936hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381852
hg191852
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621785
Supporting Variants
SamplesHG02252
Known GenesLRSAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13622611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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