A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563504



Internal ID7036264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73035970..73038193hg38UCSC Ensembl
Outerchr8:73948205..73950428hg19UCSC Ensembl
Outerchr8:74110759..74112982hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg384078
hg194078
hg184078
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996705
Supporting Variants
SamplesHuRef
Known GenesTERF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563504
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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