A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990953



Internal ID7061614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72431102..72431198hg38UCSC Ensembl
chr3:72480253..72480349hg19UCSC Ensembl
chr3:72562943..72563039hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569012
SamplesHuRef
Known GenesRYBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990953
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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