A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573226



Internal ID7044608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126074684..126074684hg38UCSC Ensembl
chr8:127086928..127086928hg19UCSC Ensembl
chr8:127156110..127156110hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992210
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573226
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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