A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004289



Internal ID6716413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796619..42799727hg38UCSC Ensembl
Outerchr3:42838111..42841219hg19UCSC Ensembl
Outerchr3:42813115..42816223hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg383109
hg193109
hg183109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565760
SamplesHuRef
Known GenesHIGD1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004289
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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