A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003596



Internal ID7068701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71961157..71966332hg38UCSC Ensembl
Outerchr12:72354937..72360112hg19UCSC Ensembl
Outerchr12:70641204..70646379hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg385176
hg195176
hg185176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565166
SamplesHuRef
Known GenesTPH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003596
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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