A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565630



Internal ID6690326
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010880
Supporting Variants
SamplesHuRef
Known GenesRACGAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565630
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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