A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992826



Internal ID7062319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6730315..6730635hg38UCSC Ensembl
chr8:6587836..6588156hg19UCSC Ensembl
chr8:6575244..6575564hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568778
SamplesHuRef
Known GenesAGPAT5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992826
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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