A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621787



Internal ID7008653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127619663..127621738hg38UCSC Ensembl
Innerchr9:127619673..127621729hg38UCSC Ensembl
Outerchr9:127619654..127621748hg38UCSC Ensembl
chr9:130381942..130384017hg19UCSC Ensembl
Innerchr9:130381952..130384008hg19UCSC Ensembl
Outerchr9:130381933..130384027hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382076
hg192076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13622624, essv13622628, essv13622627, essv13622626, essv13622629, essv13622625
SamplesHG03057, HG03464, NA19923, HG03225, HG02477, NA19043
Known GenesSTXBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621787
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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