A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994076



Internal ID43666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6209679..6211177hg38UCSC Ensembl
Outerchr10:6251642..6253140hg19UCSC Ensembl
Outerchr10:6291648..6293146hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564993
SamplesHuRef
Known GenesPFKFB3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994076
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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