A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992832



Internal ID7062325
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563518
SamplesHuRef
Known GenesA2MP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992832
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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