A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990005



Internal ID7061248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40916362..40922791hg38UCSC Ensembl
Outerchr8:40773881..40780310hg19UCSC Ensembl
Outerchr8:40893038..40899467hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386430
hg196430
hg186430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564044
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990005
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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