A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621869



Internal ID6662045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130876741..130992658hg38UCSC Ensembl
Innerchr9:130876755..130992645hg38UCSC Ensembl
Outerchr9:130876728..130992672hg38UCSC Ensembl
chr9:133752128..133868045hg19UCSC Ensembl
Innerchr9:133752142..133868032hg19UCSC Ensembl
Outerchr9:133752115..133868059hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38115918
hg19115918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13630366
SamplesHG04212
Known GenesABL1, FIBCD1, QRFP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621869
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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