A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010039



Internal ID7059733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:97234105..97242604hg38UCSC Ensembl
Outerchr12:97627883..97636382hg19UCSC Ensembl
Outerchr12:96152014..96160513hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388500
hg198500
hg188500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563885
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010039
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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