A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000555



Internal ID6712697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3128574..3135292hg38UCSC Ensembl
Outerchr12:3237740..3244458hg19UCSC Ensembl
Outerchr12:3108001..3114719hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386719
hg196719
hg186719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565498
SamplesHuRef
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000555
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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