A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565513



Internal ID7036895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8219975..8224771hg38UCSC Ensembl
Outerchr12:8372571..8377367hg19UCSC Ensembl
Outerchr12:8263838..8268634hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3827684
hg1927684
hg1827684
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001803
Supporting Variants
SamplesHuRef
Known GenesFAM90A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565513
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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