A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991445



Internal ID6727409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31713729..31714079hg38UCSC Ensembl
chr8:31571245..31571595hg19UCSC Ensembl
chr8:31690787..31691137hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38351
hg19351
hg18351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576514
SamplesHuRef
Known GenesNRG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991445
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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