A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563518



Internal ID7036278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9227848..9228541hg38UCSC Ensembl
Outerchr12:9380444..9381137hg19UCSC Ensembl
Outerchr12:9271711..9272404hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386725
hg196725
hg186725
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992832
Supporting Variants
SamplesHuRef
Known GenesA2MP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563518
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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