A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003322



Internal ID6715454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93820229..93828964hg38UCSC Ensembl
Outerchr1:94285785..94294520hg19UCSC Ensembl
Outerchr1:94058373..94067108hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388736
hg198736
hg188736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564045
SamplesHuRef
Known GenesBCAR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003322
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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