A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998128



Internal ID6734068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479780..19479848hg38UCSC Ensembl
chr8:19337291..19337359hg19UCSC Ensembl
chr8:19381571..19381639hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585728
SamplesHuRef
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998128
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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