A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13579358



Internal ID1917995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:99721435..99723694hg38UCSC Ensembl
Innerchr9:99721457..99723673hg38UCSC Ensembl
Outerchr9:99721414..99723716hg38UCSC Ensembl
chr9:102483717..102485976hg19UCSC Ensembl
Innerchr9:102483739..102485955hg19UCSC Ensembl
Outerchr9:102483696..102485998hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621225
Supporting Variants
SamplesHG01795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13579358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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