A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001621



Internal ID7066745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46681182..46682028hg38UCSC Ensembl
Outerchr12:47074965..47075811hg19UCSC Ensembl
Outerchr12:45361232..45362078hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38847
hg19847
hg18847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565230
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001621
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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