A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583222



Internal ID6707918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479826..19479893hg38UCSC Ensembl
chr8:19337337..19337404hg19UCSC Ensembl
chr8:19381617..19381684hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000464
Supporting Variants
SamplesHuRef
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583222
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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