A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621805



Internal ID6661981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128198715..128201334hg38UCSC Ensembl
Innerchr9:128198736..128201313hg38UCSC Ensembl
Outerchr9:128198694..128201355hg38UCSC Ensembl
chr9:130960994..130963613hg19UCSC Ensembl
Innerchr9:130961015..130963592hg19UCSC Ensembl
Outerchr9:130960973..130963634hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13622818, essv13622822, essv13622819, essv13622824, essv13622812, essv13622817, essv13622815, essv13622821, essv13622816, essv13622823, essv13622813, essv13622814, essv13622820
SamplesHG03378, HG02318, HG03126, NA20359, HG03168, HG03578, HG03195, HG03388, HG03240, HG02923, NA19351, NA19430, HG01886
Known GenesCIZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621805
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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