A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000452



Internal ID6712596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3417831..3423402hg38UCSC Ensembl
Outerchr1:3334395..3339966hg19UCSC Ensembl
Outerchr1:3324255..3329826hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385572
hg195572
hg185572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565499
SamplesHuRef
Known GenesPRDM16
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000452
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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