A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13543316



Internal ID1028246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:85470700..85478782hg38UCSC Ensembl
Innerchr9:85470700..85478782hg38UCSC Ensembl
Outerchr9:85470200..85479282hg38UCSC Ensembl
chr9:88085615..88093697hg19UCSC Ensembl
Innerchr9:88085615..88093697hg19UCSC Ensembl
Outerchr9:88085115..88094197hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg388083
hg198083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620937
Supporting Variants
SamplesHG00650
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13543316
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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