A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569739



Internal ID6694435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19387074..19387225hg38UCSC Ensembl
chr8:19244585..19244736hg19UCSC Ensembl
chr8:19288865..19289016hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38152
hg19152
hg18152
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003522
Supporting Variants
SamplesHuRef
Known GenesSH2D4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569739
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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