A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010019



Internal ID6722109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22375138..22386803hg38UCSC Ensembl
Outerchr8:22232651..22244316hg19UCSC Ensembl
Outerchr8:22288596..22300261hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3811666
hg1911666
hg1811666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564596
SamplesHuRef
Known GenesSLC39A14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010019
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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