A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004636



Internal ID6716759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49938793..49940220hg38UCSC Ensembl
Outerchr3:49976226..49977653hg19UCSC Ensembl
Outerchr3:49951230..49952657hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381428
hg191428
hg181428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565142
SamplesHuRef
Known GenesRBM6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004636
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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