A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994772



Internal ID6730722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28113468..28113473hg38UCSC Ensembl
chr8:27970985..27970990hg19UCSC Ensembl
chr8:28026904..28026909hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571724
SamplesHuRef
Known GenesELP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994772
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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