A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001649



Internal ID7066773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126484513..126484963hg38UCSC Ensembl
chr9:129246792..129247242hg19UCSC Ensembl
chr9:128286613..128287063hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38451
hg19451
hg18451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569762
SamplesHuRef
Known GenesMVB12B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001649
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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