A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994514



Internal ID7063075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12602975..12609130hg38UCSC Ensembl
Outerchr12:12755909..12762064hg19UCSC Ensembl
Outerchr12:12647176..12653331hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386156
hg196156
hg186156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565434
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994514
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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