A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010880



Internal ID6722971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50019100..50021969hg38UCSC Ensembl
Outerchr12:50412883..50415752hg19UCSC Ensembl
Outerchr12:48699150..48702019hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383878
hg193878
hg183878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565630
SamplesHuRef
Known GenesRACGAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010880
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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