A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571652



Internal ID6696348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19197748..19198019hg38UCSC Ensembl
chr8:19055258..19055529hg19UCSC Ensembl
chr8:19099538..19099809hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988210
Supporting Variants
SamplesHuRef
Known GenesLOC100128993
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571652
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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