A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563878



Internal ID7034978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168407753..168411273hg38UCSC Ensembl
Outerchr1:168376991..168380511hg19UCSC Ensembl
Outerchr1:166643615..166647135hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383120
hg193120
hg183120
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998321
Supporting Variants
SamplesHuRef
Known GenesLOC100505918
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563878
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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