A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009667



Internal ID7059479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:37706038..37708652hg38UCSC Ensembl
Outerchr3:37747529..37750143hg19UCSC Ensembl
Outerchr3:37722533..37725147hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383080
hg193080
hg183080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563890
SamplesHuRef
Known GenesITGA9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009667
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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