A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565837



Internal ID7037219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72875537..72881594hg38UCSC Ensembl
chr8:73787772..73793829hg19UCSC Ensembl
chr8:73950326..73956383hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386058
hg196058
hg186058
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993471
Supporting Variants
SamplesHuRef
Known GenesKCNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565837
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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