A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569012



Internal ID7040394
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990953
Supporting Variants
SamplesHuRef
Known GenesRYBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569012
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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