A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619172



Internal ID7006052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:148486..193583hg38UCSC Ensembl
chr9:148486..193583hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3845098
hg1945098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13373821, essv13373816, essv13373818, essv13373820, essv13373822, essv13373823, essv13373817, essv13373819
SamplesHG01806, HG00179, HG03803, HG02570, NA18572, HG01241, HG04152, HG01786
Known GenesCBWD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619172
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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