A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004863



Internal ID7069959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:12808881..12818579hg38UCSC Ensembl
Outerchr16:12902738..12912436hg19UCSC Ensembl
Outerchr16:12810239..12819937hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg389699
hg199699
hg189699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563454
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004863
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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