A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008413



Internal ID6720523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28716190..28721808hg38UCSC Ensembl
Outerchr8:28573707..28579325hg19UCSC Ensembl
Outerchr8:28629626..28635244hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg385619
hg195619
hg185619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563862
SamplesHuRef
Known GenesEXTL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008413
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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