A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009248



Internal ID7073768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:66132168..66136483hg38UCSC Ensembl
Outerchr12:66525948..66530263hg19UCSC Ensembl
Outerchr12:64812215..64816530hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384316
hg194316
hg184316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565512
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009248
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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